@@ -28,28 +88,24 @@ export default () => (
Current flagship paper (v3):
{/* @ts-expect-error */}
- {/* @ts-expect-error */}
-
-
- Chen, S.*, Francioli, L. C.*, Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q.,
- Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., Poterba, T., Wilson, M. W.,
- Tarasova, Y., Phu, W., Grant, R., Yohannes, M. T., Koenig, Z., Farjoun, Y., Banks, E.,
- Donnelly, S., Gabriel, S., Gupta, N., Ferriera, S., Tolonen, C., Novod, S., Bergelson,
- L., Roazen, D., Ruano-Rubio, V., Covarrubias, M., Llanwarne, C., Petrillo, N., Wade, G.,
- Jeandet, T., Munshi, R., Tibbetts, K., Genome Aggregation Database (gnomAD) Consortium,
- O’Donnell-Luria, A., Solomonson, M., Seed, C., Martin, A. R., Talkowski, M. E., Rehm, H.
- L., Daly, M. J., Tiao, G., Neale, B. M.†, MacArthur, D. G.† & Karczewski, K. J. A
- genomic mutational constraint map using variation in 76,156 human genomes{' '}
- Nature 625, 92–100 (2024). {/* @ts-expect-error */}
-
- https://doi.org/10.1038/s41586-023-06045-0
- {' '}
- {/* @ts-expect-error */}
-
- Download citation
-
-
-
+
* contributed equally
† contributed equally
@@ -58,196 +114,300 @@ export default () => (
Previous flagship papers:
{/* @ts-expect-error */}
- {/* @ts-expect-error */}
-
- v2:{' '}
-
- Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q.,
- Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., Gauthier, L. D., Brand,
- H., Solomonson, M., Watts, N. A., Rhodes, D., Singer-Berk, M., England, E. M., Seaby, E.
- G., Kosmicki, J. A., … MacArthur, D. G. The mutational constraint spectrum quantified
- from variation in 141,456 humans. Nature 581, 434–443 (2020).{' '}
- {/* @ts-expect-error */}
-
- https://doi.org/10.1038/s41586-020-2308-7
- {' '}
- {/* @ts-expect-error */}
-
- Download citation
-
-
-
- {/* @ts-expect-error */}
-
- ExAC:{' '}
-
- Lek, M., Karczewski, K. J.*, Minikel, E. V.*, Samocha, K. E.*, Banks, E., Fennell, T.,
- O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T.,
- Birnbaum, D. P., Kosmicki, J. A., Duncan, L. E., Estrada, K., Zhao, F., Zou, J.,
- Pierce-Hoffman, E., … Daly, M. J., MacArthur, D. G. & Exome Aggregation Consortium.
- Analysis of protein-coding genetic variation in 60,706 humans. Nature 536,
- 285–291 (2016). {/* @ts-expect-error */}
-
- https://doi.org/10.1038/nature19057
- {' '}
- {/* @ts-expect-error */}
-
- Download citation
-
-
-
+
+
* contributed equally
- Remaining publications:{/* @ts-expect-error */}
+ Remaining publications:
+ {/* @ts-expect-error */}
- {/* @ts-expect-error */}
-
-
- Guo, M. H.†, Francioli, L. C.†, Stenton, S. L., Goodrich, J. K., Watts, N. A.,
+
+
+
+
- https://doi.org/10.1038/s41588-023-01608-3
-
-
-
- {/* @ts-expect-error */}
-
-
- Gudmundsson, S., Singer-Berk, M., Watts, N. A., Phu, W., Goodrich, J. K., Solomonson,
- M., Genome Aggregation Database (gnomAD) Consortium, Rehm, H. L., MacArthur, D. G.,
- O’Donnell-Luria, A. Variant interpretation using population databases: Lessons from
- gnomAD. Human Mutation 1-19 (2021). {/* @ts-expect-error */}
-
- https://doi.org/10.1002/humu.24309
-
-
-
- {/* @ts-expect-error */}
-
-
- Laricchia, K. M.*, Lake, N. J.*, Watts, N. A., Shand, M., Haessly, A., Gauthier, L. D.,
+ O’Donnell-Luria, A., Karczewski, K., MacArthur, D. G., Samocha, K. E."
+ title="Inferring compound
+ heterozygosity from large-scale exome sequencing data."
+ journal="Nature Genetics"
+ issue="56"
+ pages="152-161"
+ year="2024"
+ doiLink="https://doi.org/10.1038/s41588-023-01608-3"
+ pmid="38057443"
+ pmcid="PMC10872287"
+ />
+
+
+
+
+
+
+
+
+
- https://doi.org/10.1101/gr.276013.121
-
-
-
- {/* @ts-expect-error */}
-
-
- Collins, R. L.*, Brand, H.*, Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C.,
- Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., Watts, N. A., Solomonson, M.,
- O’Donnell-Luria, A., Baumann, A., Munshi, R., Walker, M., Whelan, C., Huang, Y.,
- Brookings, T., … Talkowski, M. E. A structural variation reference for medical and
- population genetics. Nature 581, 444–451 (2020). {/* @ts-expect-error */}
-
- https://doi.org/10.1038/s41586-020-2287-8
-
-
-
- {/* @ts-expect-error */}
-
-
- Cummings, B. B., Karczewski, K. J., Kosmicki, J. A., Seaby, E. G., Watts, N. A.,
- Singer-Berk, M., Mudge, J. M., Karjalainen, J., Kyle Satterstrom, F., O’Donnell-Luria,
- A., Poterba, T., Seed, C., Solomonson, M., Alföldi, J., The Genome Aggregation Database
- Production Team, The Genome Aggregation Database Consortium, Daly, M. J., & MacArthur,
- D. G. Transcript expression-aware annotation improves rare variant interpretation.{' '}
- Nature 581, 452–458 (2020). {/* @ts-expect-error */}
-
- https://doi.org/10.1038/s41586-020-2329-2
-
-
-
- {/* @ts-expect-error */}
-
-
- Minikel, E. V., Karczewski, K. J., Martin, H. C., Cummings, B. B., Whiffin, N., Rhodes,
- D., Alföldi, J., Trembath, R. C., van Heel, D. A., Daly, M. J., Genome Aggregation
- Database Production Team, Genome Aggregation Database Consortium, Schreiber, S. L., &
- MacArthur, D. G. Evaluating potential drug targets through human loss-of-function
- genetic variation. Nature 581, 459–464 (2020). {/* @ts-expect-error */}
-
- https://doi.org/10.1038/s41586-020-2267-z
-
-
-
- {/* @ts-expect-error */}
-
-
- Wang, Q., Pierce-Hoffman, E., Cummings, B. B., Karczewski, K. J., Alföldi, J.,
- Francioli, L. C., Gauthier, L. D., Hill, A. J., O’Donnell-Luria, A. H., Genome
- Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD)
- Consortium, & MacArthur, D. G. Landscape of multi-nucleotide variants in 125,748 human
- exomes and 15,708 genomes. Nature Communications 11, 2539 (2020).{' '}
- {/* @ts-expect-error */}
-
- https://doi.org/10.1038/s41467-019-12438-5
-
-
-
- {/* @ts-expect-error */}
-
-
- Whiffin, N.*, Armean, I. M.*, Kleinman, A.*, Marshall, J. L., Minikel, E. V., Goodrich,
- J. K., Quaife, N. M., Cole, J. B., Wang, Q., Karczewski, K. J., Cummings, B. B.,
- Francioli, L., Laricchia, K., Guan, A., Alipanahi, B., Morrison, P., Baptista, M. A. S.,
- Merchant, K. M., Genome Aggregation Database Production Team, … Cannon, P.†, MacArthur,
- D. G.† The effect of LRRK2 loss-of-function variants in humans. Nature Medicine{' '}
- (2020). {/* @ts-expect-error */}
-
- https://doi.org/10.1038/s41591-020-0893-5
-
-
-
- {/* @ts-expect-error */}
-
-
- Whiffin, N., Karczewski, K. J., Zhang, X., Chothani, S., Smith, M. J., Gareth Evans, D.,
+ Calvo, S. E.†"
+ title="Mitochondrial DNA variation across 56,434 individuals in gnomAD."
+ journal="Genome Research"
+ issue="32"
+ pages="569-582"
+ year="2022"
+ doiLink="https://doi.org/10.1101/gr.276013.121"
+ pmid="35074858"
+ />
+
+
- https://doi.org/10.1038/s41467-019-10717-9
-
-
-
- {/* @ts-expect-error */}
-
-
- Karczewski, K. J., Gauthier, L. D., & Daly, M. J. Technical artifact drives apparent
- deviation from Hardy-Weinberg equilibrium at CCR5-∆32 and other variants in gnomAD{' '}
- bioRxiv (p. 784157). {/* @ts-expect-error */}
-
- https://doi.org/10.1101/784157
-
-
-
- {/* @ts-expect-error */}
-
-
- Karczewski, K. J., Weisburd, B., Thomas, B., Solomonson, M., Ruderfer, D. M., Kavanagh,
+ G.†, & Ware, J. S.†"
+ title="Characterising the loss-of-function impact of 5’ untranslated region
+ variants in 15,708 individuals."
+ journal="Nature Communications"
+ issue="11"
+ pages="2523"
+ year="2020"
+ doiLink="https://doi.org/10.1038/s41467-019-10717-9"
+ pmid="32461616"
+ />
+
+
+
+
+
+
- https://doi.org/10.1093/nar/gkw971
-
-
-
+ Aggregation Consortium, Daly, M. J., MacArthur, D. G."
+ title="The ExAC browser: displaying
+ reference data information from over 60000 exomes."
+ journal="Nucleic Acids Research"
+ issue="Volume 45, Issue D1"
+ pages="D840-D845"
+ year="2017"
+ doiLink="https://doi.org/10.1093/nar/gkw971"
+ pmid="27899611"
+ pmcid="PMC5210650"
+ />
* contributed equally
† contributed equally
diff --git a/browser/src/Routes.tsx b/browser/src/Routes.tsx
index 426e85f0d..aa6c26d8b 100644
--- a/browser/src/Routes.tsx
+++ b/browser/src/Routes.tsx
@@ -13,6 +13,7 @@ const AboutPage = lazy(() => import('./AboutPage'))
const TeamPage = lazy(() => import('./TeamPage/TeamPage'))
const ContactPage = lazy(() => import('./ContactPage'))
const DataPage = lazy(() => import('./DataPage/DataPage'))
+const FederationPage = lazy(() => import('./FederationPage'))
const HelpPage = lazy(() => import('./help/HelpPage'))
const HelpTopicPage = lazy(() => import('./help/HelpTopicPage'))
const HomePage = lazy(() => import('./HomePage'))
@@ -169,6 +170,8 @@ const Routes = () => {
+
+
{/* /downloads is the legacy path to the data page, which we still support here because there are lots of extant links to fragments within /downloads, and those get stripped if you use a redirect. */}
diff --git a/browser/src/TeamPage/TeamMembers.json b/browser/src/TeamPage/TeamMembers.json
index 8128814a0..e6aad6167 100644
--- a/browser/src/TeamPage/TeamMembers.json
+++ b/browser/src/TeamPage/TeamMembers.json
@@ -74,11 +74,6 @@
"bio": "is the Manual Genome Annotation Coordinator at the European Bioinformatics Institute. He has more than 20 years experience leading the creation of reference genome annotation, initially as part of the Human Genome Project and more recently as part the the GENCODE consortium. His group creates the foundational Ensembl/GENCODE reference genome annotation for the human and mouse genomes in which all features are identified and classified with high accuracy based on biological evidence, and then freely released for the benefit of biomedical research and genome interpretation.",
"headshotSource": "adam_frankish.jpg"
},
- {
- "name": "Cecilia Lindgren, Ph.D.,",
- "bio": "is the Director of the Big Data Institute (BDI), Li Ka Shing Centre for Health Information and Discovery at University of Oxford. Her work has contributed to a substantial furthering of our understanding of the genetic landscape of obesity and fat distribution. In line with this, she is co-chairing a range of large-scale international consortia; the central adiposity team within the GiANT consortium, the Polycystic Ovary Syndrome (PCOS) consortium and she is a co-founder of the international Common Disease Alliance (ICDA). She has been awarded numerous awards, including the “Rising Star Award” from European Association for the Study of Diabetes (2010), the “Association for the Study of Obesity’s Obesity and Cardiovascular Health Award” (2011), the inaugural “Leena Peltonen Prize for Excellence in Human Genetics” (2013), ”30th Khwarizmi International Award” (2017) and the American Society of Human Genetics Mentorship Award (2018).",
- "headshotSource": "cecilia_lindgren.jpg"
- },
{
"name": "Andrés Moreno Estrada, M.D, Ph.D.,",
"bio": "is a Mexican population geneticist deeply interested in molecular evolution and its implications in human population history and medical genomics. He is the PI of the Human Evolutionary and Population Genomics Laboratory at the Advanced Genomics Unit (UGA-Langebio). As a postdoctoral fellow with Dr. Carlos Bustamante and research associate at Stanford University, his work integrated genomics, evolution and precision medicine in many different projects involving large collections of populations, in particular from the Americas and the Pacific. His group at UGA-Langebio is interested in human evolution, adaptation, and population history as well as the biomedical implications of human genetic diversity in underserved populations of the world.",
@@ -111,7 +106,7 @@
},
{
"name": "Heiko Runz, M.D.,",
- "bio": "is the Senior Medical Director and head of Human Genetics at Biogen. He is a medical geneticist and basic researcher with a mission to implement genetics at the core of future medicine. His research focus is on translating genetic discoveries into functional insights and early-stage drug development programs across all therapeutic areas. Dr. Runz has a broad interdisciplinary background that tightly integrates technological innovation and applied medicine.",
+ "bio": "Heiko Runz, M.D., is the Vice President for Neuroscience/Genetics at insitro. He is a medical geneticist and basic researcher with a mission to implement genetics at the core of future medicine. His research focus is on translating genetic discoveries into functional insights and early-stage drug development programs with a focus on CNS diseases. Dr. Runz has a broad interdisciplinary background that tightly integrates technological innovation and applied medicine.",
"headshotSource": "heiko_runz.jpg"
}
],
@@ -134,14 +129,9 @@
},
{
"name": "Riley Grant",
- "bio": "is an Associate Software Engineer at the Broad Institute, where he works on the gnomAD Browser. He's interested in encouraging collaboration through open source software and open access datasets.",
+ "bio": "is a Software Engineer at the Broad Institute, where he works on the gnomAD Browser. He's interested in encouraging collaboration through open source software and open access datasets.",
"headshotSource": "riley_grant.jpg"
},
- {
- "name": "Steve Jahl",
- "bio": "is a Site Reliability Engineer working on keeping the gnomAD Browser stable, performant, and secure. Steve has worked previously as an SRE for a Boston-based fintech startup, and as a software engineer and systems administrator for research computing groups at MIT CSAIL and Harvard Medical School.",
- "headshotSource": "steve_jahl.jpg"
- },
{
"name": "Konrad Karczewski",
"bio": "works on the gnomAD browser.",
diff --git a/browser/src/TeamPage/__snapshots__/TeamPage.spec.tsx.snap b/browser/src/TeamPage/__snapshots__/TeamPage.spec.tsx.snap
index 87a707c81..c1ca68b5c 100644
--- a/browser/src/TeamPage/__snapshots__/TeamPage.spec.tsx.snap
+++ b/browser/src/TeamPage/__snapshots__/TeamPage.spec.tsx.snap
@@ -693,37 +693,6 @@ exports[`Team Page has no unexpected changes 1`] = `
-
-
-
-
![Headshot of Cecilia Lindgren, Ph.D.,]()
-
-
-
- Cecilia Lindgren, Ph.D.,
-
-
-
- is the Director of the Big Data Institute (BDI), Li Ka Shing Centre for Health Information and Discovery at University of Oxford. Her work has contributed to a substantial furthering of our understanding of the genetic landscape of obesity and fat distribution. In line with this, she is co-chairing a range of large-scale international consortia; the central adiposity team within the GiANT consortium, the Polycystic Ovary Syndrome (PCOS) consortium and she is a co-founder of the international Common Disease Alliance (ICDA). She has been awarded numerous awards, including the “Rising Star Award” from European Association for the Study of Diabetes (2010), the “Association for the Study of Obesity’s Obesity and Cardiovascular Health Award” (2011), the inaugural “Leena Peltonen Prize for Excellence in Human Genetics” (2013), ”30th Khwarizmi International Award” (2017) and the American Society of Human Genetics Mentorship Award (2018).
-
-
-
-
@@ -936,7 +905,7 @@ exports[`Team Page has no unexpected changes 1`] = `
className="c12"
>
- is the Senior Medical Director and head of Human Genetics at Biogen. He is a medical geneticist and basic researcher with a mission to implement genetics at the core of future medicine. His research focus is on translating genetic discoveries into functional insights and early-stage drug development programs across all therapeutic areas. Dr. Runz has a broad interdisciplinary background that tightly integrates technological innovation and applied medicine.
+ Heiko Runz, M.D., is the Vice President for Neuroscience/Genetics at insitro. He is a medical geneticist and basic researcher with a mission to implement genetics at the core of future medicine. His research focus is on translating genetic discoveries into functional insights and early-stage drug development programs with a focus on CNS diseases. Dr. Runz has a broad interdisciplinary background that tightly integrates technological innovation and applied medicine.
@@ -1095,38 +1064,7 @@ exports[`Team Page has no unexpected changes 1`] = `
className="c12"
>
- is an Associate Software Engineer at the Broad Institute, where he works on the gnomAD Browser. He's interested in encouraging collaboration through open source software and open access datasets.
-
-
-
-
-
-
-
-
![Headshot of Steve Jahl]()
-
-
-
- Steve Jahl
-
-
-
- is a Site Reliability Engineer working on keeping the gnomAD Browser stable, performant, and secure. Steve has worked previously as an SRE for a Boston-based fintech startup, and as a software engineer and systems administrator for research computing groups at MIT CSAIL and Harvard Medical School.
+ is a Software Engineer at the Broad Institute, where he works on the gnomAD Browser. He's interested in encouraging collaboration through open source software and open access datasets.
@@ -1863,6 +1801,7 @@ exports[`Team Page has no unexpected changes 1`] = `
- Laurent Francioli (production and analysis)
- Jeff Gentry (data generation)
- Thibault Jeandet (data generation)
+- Steve Jahl (browser)
- Diane Kaplan (data generation)
- Monkol Lek (production and analysis)
- Eric Minikel (analysis)
diff --git a/browser/src/__snapshots__/AboutPage.spec.tsx.snap b/browser/src/__snapshots__/AboutPage.spec.tsx.snap
index 41a41d567..6424bf416 100644
--- a/browser/src/__snapshots__/AboutPage.spec.tsx.snap
+++ b/browser/src/__snapshots__/AboutPage.spec.tsx.snap
@@ -253,7 +253,7 @@ exports[`About Page has no unexpected changes 1`] = `
className="c3"
dangerouslySetInnerHTML={
{
- "__html": "The Genome Aggregation Database (gnomAD), originally launched in 2014 as the Exome Aggregation Consortium (ExAC), is the result of a coalition of investigators willing to share aggregate exome and genome sequencing data from a variety of large-scale sequencing projects, and make summary data available for the wider scientific community. The project is overseen by co-directors Heidi Rehm and Mark Daly, and steering committee members Samantha Baxter, Katherine Chao, Julia Goodrich, Konrad Karczewski, Daniel MacArthur, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Matthew Solomonson, and Michael Talkowski. To learn more about the team that produces gnomAD please see our [team page](/team). A list of investigators and groups that have contributed data is available below.
+ "__html": "The Genome Aggregation Database (gnomAD™), originally launched in 2014 as the Exome Aggregation Consortium (ExAC), is the result of a coalition of investigators willing to share aggregate human exome and genome sequencing data from a variety of large-scale sequencing projects, and make summary data available for the wider scientific community. The project is overseen by co-directors Heidi Rehm and Mark Daly, and steering committee members Samantha Baxter, Katherine Chao, Julia Goodrich, Konrad Karczewski, Daniel MacArthur, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Matthew Solomonson, and Michael Talkowski. To learn more about the team that produces gnomAD please see our [team page](/team). A list of investigators and groups that have contributed data is available below.
The gnomAD database is composed of exome and genome sequences from around the world. We have removed cohorts that were recruited for pediatric disease, except for a small number of diverse cohorts where we have included unaffected relatives. As such, the gnomAD resource should serve as useful reference sets of allele frequencies for severe pediatric disease studies - however, note that some individuals with severe disease may still be included in the data sets such as biobanks, albeit likely at a frequency equivalent to or lower than that seen in the general population.
diff --git a/browser/src/__snapshots__/FederationPage.spec.tsx.snap b/browser/src/__snapshots__/FederationPage.spec.tsx.snap
new file mode 100644
index 000000000..06a2a2f46
--- /dev/null
+++ b/browser/src/__snapshots__/FederationPage.spec.tsx.snap
@@ -0,0 +1,597 @@
+// Jest Snapshot v1, https://goo.gl/fbAQLP
+
+exports[`Federation Page has no unexpected changes 1`] = `
+.c8 {
+ color: #1173bb;
+ -webkit-text-decoration: none;
+ text-decoration: none;
+}
+
+.c8:visited,
+.c8:active {
+ color: #1173bb;
+}
+
+.c8:focus,
+.c8:hover {
+ -webkit-text-decoration: underline;
+ text-decoration: underline;
+}
+
+.c1 {
+ display: -webkit-box;
+ display: -webkit-flex;
+ display: -ms-flexbox;
+ display: flex;
+ -webkit-flex-direction: row;
+ -ms-flex-direction: row;
+ flex-direction: row;
+ -webkit-box-pack: justify;
+ -webkit-justify-content: space-between;
+ -ms-flex-pack: justify;
+ justify-content: space-between;
+ padding-bottom: 0.5em;
+ border-bottom: 1px solid #ccc;
+ margin: 0.67em 0;
+ font-size: 14px;
+}
+
+.c2 {
+ margin: 0;
+}
+
+.c0 {
+ box-sizing: border-box;
+ width: 100%;
+ max-width: 1200px;
+ padding: 0 15px;
+ margin: 0 auto 40px;
+ font-size: 14px;
+ font-size: 16px;
+}
+
+.c0 p {
+ margin-bottom: 1em;
+ line-height: 1.4;
+}
+
+.c3 {
+ font-size: 16px;
+}
+
+.c3 h1,
+.c3 h2,
+.c3 h3 {
+ font-weight: bold;
+}
+
+.c3 h1 {
+ font-size: 2em;
+}
+
+.c3 h2 {
+ font-size: 1.5em;
+}
+
+.c3 p {
+ margin-top: 15px;
+ margin-bottom: 15px;
+ line-height: 1.4;
+}
+
+.c3 a {
+ color: #428bca;
+ -webkit-text-decoration: none;
+ text-decoration: none;
+}
+
+.c3 img {
+ max-width: 100%;
+}
+
+.c3 blockquote {
+ margin: 0 0 0 10px;
+ font-size: 14px;
+ font-style: italic;
+ line-height: 1.4;
+}
+
+.c3 ol,
+.c3 ul {
+ padding-left: 20px;
+ margin: 1em 0;
+}
+
+.c3 li {
+ margin-bottom: 0.5em;
+}
+
+.c3 table {
+ border-collapse: collapse;
+ border-spacing: 0;
+}
+
+.c3 td {
+ padding: 0.5em 10px 0.5em 0;
+ border-bottom: 1px solid #ccc;
+ font-weight: normal;
+ text-align: left;
+}
+
+.c3 th {
+ padding: 0.5em 10px 0.5em 0;
+ border-bottom: 1px solid #000;
+ background-position: center right;
+ background-repeat: no-repeat;
+ font-weight: bold;
+}
+
+.c5 {
+ border-collapse: collapse;
+ min-width: 400px;
+ font-size: 0.9em;
+ -webkit-letter-spacing: 0.01px;
+ -moz-letter-spacing: 0.01px;
+ -ms-letter-spacing: 0.01px;
+ letter-spacing: 0.01px;
+}
+
+.c5 th,
+.c5 td {
+ padding: 12px 15px;
+ text-align: center;
+}
+
+.c6 {
+ background-color: #0e6fbf;
+ color: #fafafa;
+}
+
+.c6 th {
+ font-weight: bold;
+}
+
+.c7 tr {
+ border-bottom: 1px solid #ddd;
+ text-align: center;
+}
+
+.c7 tr:nth-of-type(even) {
+ background-color: #f3f3f3;
+}
+
+.c7 td.rb {
+ border-right: 1px solid #bbb;
+}
+
+.c4 {
+ display: -webkit-box;
+ display: -webkit-flex;
+ display: -ms-flexbox;
+ display: flex;
+ -webkit-box-pack: space-around;
+ -webkit-justify-content: space-around;
+ -ms-flex-pack: space-around;
+ justify-content: space-around;
+}
+
+.c9 {
+ display: -webkit-box;
+ display: -webkit-flex;
+ display: -ms-flexbox;
+ display: flex;
+ -webkit-align-items: center;
+ -webkit-box-align: center;
+ -ms-flex-align: center;
+ align-items: center;
+ gap: 2rem;
+ margin: 2rem 0;
+}
+
+.c10 {
+ width: 200px;
+ height: auto;
+}
+
+.c11 {
+ width: 200px;
+ height: auto;
+ width: 400px;
+}
+
+@media (max-width:900px) {
+ .c1 {
+ -webkit-flex-direction: column;
+ -ms-flex-direction: column;
+ flex-direction: column;
+ -webkit-align-items: center;
+ -webkit-box-align: center;
+ -ms-flex-align: center;
+ align-items: center;
+ border-bottom: none;
+ }
+}
+
+@media (max-width:900px) {
+ .c2 {
+ display: -webkit-box;
+ display: -webkit-flex;
+ display: -ms-flexbox;
+ display: flex;
+ -webkit-flex-direction: column;
+ -ms-flex-direction: column;
+ flex-direction: column;
+ -webkit-align-items: center;
+ -webkit-box-align: center;
+ -ms-flex-align: center;
+ align-items: center;
+ padding-bottom: 0.5em;
+ border-bottom: 1px solid #ccc;
+ margin-bottom: 0.5em;
+ }
+}
+
+
+
+
+ Federated gnomAD
+
+
+
+
+
+
+
+
+
+
+
+
+ |
+ Country
+ |
+
+ Samples
+ |
+
+ Source
+ |
+
+ Lead
+ |
+
+
+
+
+ |
+ Africa
+ |
+
+ TBD
+ |
+
+ African Genome Variation Database
+ |
+
+ Nicky Mulder
+ |
+
+
+ |
+ Australia
+ |
+
+ 10,000
+ |
+
+
+ Our DNA
+
+ |
+
+ Daniel MacArthur
+ |
+
+
+ |
+ Brazil
+ |
+
+ 21,000
+ |
+
+ Genomas SUS
+ |
+
+ Leandro Colli
+ |
+
+
+ |
+ Canada
+ |
+
+ 60,000
+ |
+
+ Canadian Genomic Data Commons
+ |
+
+ Jordan Lerner-Ellis
+ |
+
+
+ |
+ China
+ |
+
+ 10,000
+ |
+
+
+ China Kadoorie Biobank (>500K)
+
+ |
+
+ Xiao Li
+ |
+
+
+ |
+ Europe
+ |
+
+ TBD
+ |
+
+
+ European Genome Phenome Archive
+
+ |
+
+ Abeer Fadda
+ |
+
+
+ |
+ Europe
+ |
+
+ 30,000
+ |
+
+
+ European Reference Network for Rare Neurological Diseases
+
+ |
+
+ Holm Graessner
+ |
+
+
+ |
+ Germany
+ |
+
+ 10,000
+ |
+
+
+ Clinical sequencing
+
+ |
+
+ Peter Krawitz
+ |
+
+
+ |
+ Germany
+ |
+
+ TBD
+ |
+
+ The German Human Genome-Phenome Archive (GHGA)
+ |
+
+ Drew Behrens
+ |
+
+
+ |
+ Japan
+ |
+
+ 100,000
+ |
+
+
+ Tomoku Medical Megabank Organization
+
+ |
+
+ Soichi Ogishima
+ |
+
+
+ |
+ Qatar
+ |
+
+ 25,000
+ |
+
+
+ Qatar Biobank
+
+ |
+
+ Chadi Saad
+ |
+
+
+ |
+ Singapore
+ |
+
+ 10,000
+ |
+
+
+ SG10K_Health data
+
+ |
+
+ Maxime Hebrard
+ |
+
+
+ |
+ Taiwan
+ |
+
+ 1,500
+ |
+
+
+ Taiwan Biobank
+
+ |
+
+ Jacob Shujui Hsu
+ |
+
+
+ |
+ UK
+ |
+
+ 50,000
+ |
+
+
+ Avon Longitudinal Study of Parents and Children (ALSPC), Born in Bradford, Millennium Cohort Study (MCS), Fenland Study
+
+ |
+
+ Vivek Iyer
+ |
+
+
+
+
+
+
+
+
+
+`;
diff --git a/browser/src/__snapshots__/HomePage.spec.tsx.snap b/browser/src/__snapshots__/HomePage.spec.tsx.snap
index 4ff17e879..13359896d 100644
--- a/browser/src/__snapshots__/HomePage.spec.tsx.snap
+++ b/browser/src/__snapshots__/HomePage.spec.tsx.snap
@@ -586,7 +586,7 @@ exports[`Home Page has no unexpected changes 1`] = `
Genome Aggregation Database
- (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
+ (gnomAD™) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
The v4 data set (GRCh38) provided on this website spans 730,947 exome sequences and 76,215 whole-genome sequences from unrelated individuals, of
diff --git a/browser/src/__snapshots__/NavBar.spec.tsx.snap b/browser/src/__snapshots__/NavBar.spec.tsx.snap
index 97006914a..8d5b24a9f 100644
--- a/browser/src/__snapshots__/NavBar.spec.tsx.snap
+++ b/browser/src/__snapshots__/NavBar.spec.tsx.snap
@@ -349,6 +349,14 @@ exports[`NavBar has no unexpected changes 1`] = `
Team
+
+
+ Federated
+
+
- Chen, S.*, Francioli, L. C.*, Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., Poterba, T., Wilson, M. W., Tarasova, Y., Phu, W., Grant, R., Yohannes, M. T., Koenig, Z., Farjoun, Y., Banks, E., Donnelly, S., Gabriel, S., Gupta, N., Ferriera, S., Tolonen, C., Novod, S., Bergelson, L., Roazen, D., Ruano-Rubio, V., Covarrubias, M., Llanwarne, C., Petrillo, N., Wade, G., Jeandet, T., Munshi, R., Tibbetts, K., Genome Aggregation Database (gnomAD) Consortium, O’Donnell-Luria, A., Solomonson, M., Seed, C., Martin, A. R., Talkowski, M. E., Rehm, H. L., Daly, M. J., Tiao, G., Neale, B. M.†, MacArthur, D. G.† & Karczewski, K. J. A genomic mutational constraint map using variation in 76,156 human genomes
-
+ Chen, S.*, Francioli, L. C.*, Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., Poterba, T., Wilson, M. W., Tarasova, Y., Phu, W., Grant, R., Yohannes, M. T., Koenig, Z., Farjoun, Y., Banks, E., Donnelly, S., Gabriel, S., Gupta, N., Ferriera, S., Tolonen, C., Novod, S., Bergelson, L., Roazen, D., Ruano-Rubio, V., Covarrubias, M., Llanwarne, C., Petrillo, N., Wade, G., Jeandet, T., Munshi, R., Tibbetts, K., Genome Aggregation Database (gnomAD) Consortium, O’Donnell-Luria, A., Solomonson, M., Seed, C., Martin, A. R., Talkowski, M. E., Rehm, H. L., Daly, M. J., Tiao, G., Neale, B. M.†, MacArthur, D. G.† & Karczewski, K. J. A genomic mutational constraint map using variation in 76,156 human genomes.
Nature
- 625, 92–100 (2024).
-
- https://doi.org/10.1038/s41586-023-06045-0
-
-
-
- Download citation
-
+ . 625, 92-100 (2024).
+
+
+
+ https://doi.org/10.1038/s41586-023-06045-0
+
+
+
+ PMID:
+ 38057664
+
* contributed equally
@@ -177,72 +184,87 @@ exports[`Publications Page has no unexpected changes 1`] = `
-
- v2
-
- :
-
+
+ v2
+
+ :
+
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., Gauthier, L. D., Brand, H., Solomonson, M., Watts, N. A., Rhodes, D., Singer-Berk, M., England, E. M., Seaby, E. G., Kosmicki, J. A., … MacArthur, D. G. The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
- 581, 434–443 (2020).
-
-
- https://doi.org/10.1038/s41586-020-2308-7
-
-
-
- Download citation
-
+ . 581, 434-443 (2020).
+
+
+
+ https://doi.org/10.1038/s41586-020-2308-7
+
+
+
+ PMID:
+ 32461654
+
-
- ExAC
-
- :
-
- Lek, M., Karczewski, K. J.*, Minikel, E. V.*, Samocha, K. E.*, Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T., Birnbaum, D. P., Kosmicki, J. A., Duncan, L. E., Estrada, K., Zhao, F., Zou, J., Pierce-Hoffman, E., … Daly, M. J., MacArthur, D. G. & Exome Aggregation Consortium. Analysis of protein-coding genetic variation in 60,706 humans.
+
+ ExAC
+
+ :
+
+ Lek, M., Karczewski, K. J.*, Minikel, E. V.*, Samocha, K. E.*, Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T., Birnbaum, D. P., Kosmicki, J. A., Duncan, L. E., Estrada, K., Zhao, F., Zou, J., Pierce-Hoffman, E., … Daly, M. J., MacArthur, D. G. & Exome Aggregation Consortium. Analysis of protein-coding genetic variation in 60,706 humans
Nature
- 536, 285–291 (2016).
-
- https://doi.org/10.1038/nature19057
-
-
-
- Download citation
-
+ . 536, 285-291 (2016).
+
+
+
+ https://doi.org/10.1038/nature19057
+
+
+
+ PMID:
+ 27535533
+
* contributed equally
@@ -259,20 +281,118 @@ exports[`Publications Page has no unexpected changes 1`] = `
- Guo, M. H.†, Francioli, L. C.†, Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., gnomAD Project Consortium, Tiao, G., Neale, B. M., Hirschhorn, J. N., Rehm, H., Daly, M. J., O’Donnell-Luria, A., Karczewski, K., MacArthur, D. G., Samocha, K. E. Inferring compound heterozygosity from large-scale exome sequencing data.
+ Poterba, T., Vittal, C., King, D., Goldstein, D., Goldstein, J. I., Schultz, P., Karczewski, K. J., Seed, C., Neale, B. M. The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes.
+
+ Bioinformatics
+
+ . (2024).
+
+
+
+ https://doi.org/10.1093/bioinformatics/btae746
+
+
+
+ PMID:
+ 39718771
+
+
+
+
+ Gudmundsson, S., Carlston, C. M., O'Donnell-Luria, A. Interpreting variants in genes affected by clonal hematopoiesis in population data.
+
+ Human Genetics
+
+ . 143, 545-549 (2024).
+
+
+
+ https://doi.org/10.1007/s00439-023-02526-4
+
+
+
+ PMID:
+ 36739343
+
+ PMCID:
+ PMC10400727
+
+
+
+
+
+ Fowler, D. M., Rehm, H. L. Will variants of uncertain significance still exist in 2030?
+
+ American Journal of Human Genetics
+
+ . 111, 5-10 (2024).
+
+
+
+ https://doi.org/10.1016/j.ajhg.2023.11.005
+
+
+
+ PMID:
+ 38086381
+
+ PMCID:
+ PMC10806733
+
+
+
+
+
+ Guo, M. H.*, Francioli, L. C.*, Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., gnomAD Project Consortium, Tiao, G., Neale, B. M., Hirschhorn, J. N., Rehm, H., Daly, M. J., O’Donnell-Luria, A., Karczewski, K., MacArthur, D. G., Samocha, K. E. Inferring compound heterozygosity from large-scale exome sequencing data.
Nature Genetics
- (2023).
-
-
- https://doi.org/10.1038/s41588-023-01608-3
-
+ . 56, 152-161 (2024).
+
+
+
+ https://doi.org/10.1038/s41588-023-01608-3
+
+
+
+ PMID:
+ 38057443
+
+ PMCID:
+ PMC10872287
+
- Gudmundsson, S., Singer-Berk, M., Watts, N. A., Phu, W., Goodrich, J. K., Solomonson, M., Genome Aggregation Database (gnomAD) Consortium, Rehm, H. L., MacArthur, D. G., O’Donnell-Luria, A. Variant interpretation using population databases: Lessons from gnomAD.
+ Lu, W., Gauthier, L. D., Poterba, T., Giacopuzzi, E., Goodrich, J. K., Stevens, C. R., King, D., Daly, M. J., Neale, B. M., Karczewski, K. J. CHARR efficiently estimates contamination from DNA sequencing data.
- Human Mutation
+ American Journal of Human Genetics
- 1-19 (2021).
-
- https://doi.org/10.1002/humu.24309
-
+ . 110, 2068-2076 (2023).
+
+
+
+ https://doi.org/10.1016/j.ajhg.2023.10.011
+
+
+
+ PMID:
+ 38000370
+
+ PMCID:
+ PMC10716339
+
- Laricchia, K. M.*, Lake, N. J.*, Watts, N. A., Shand, M., Haessly, A., Gauthier, L. D., Benjamin, D., Banks, E., Soto, J., Garimella, K., Emery, J., Genome Aggregation Database (gnomAD) Consortium, Rehm, H. L., MacArthur, D. G., Tiao, G.†, Lek, M.†, Mootha, V. K.†, Calvo, S. E.† Mitochondrial DNA variation across 56,434 individuals in gnomAD.
-
+ Singer-Berk, M.*, Gudmundsson, S.*, Baxter, S., Seaby, E. G., England, E., Wood, J. C., Son, R. G., Watts, N. A., Karczewski, K. J., Harrison, S. M., MacArthur, D. G., Rehm, H. L., O'Donnell-Luria, A. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
- Genome Res.
+ American Journal of Human Genetics
- 32, 569–582 (2022).
-
- https://doi.org/10.1101/gr.276013.121
-
+ . 110, 1496-1508 (2023).
+
+
+
+ https://doi.org/10.1016/j.ajhg.2023.08.005
+
+
+
+ PMID:
+ 37633279
+
+ PMCID:
+ PMC10502856
+
- Collins, R. L.*, Brand, H.*, Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., Watts, N. A., Solomonson, M., O’Donnell-Luria, A., Baumann, A., Munshi, R., Walker, M., Whelan, C., Huang, Y., Brookings, T., … Talkowski, M. E. A structural variation reference for medical and population genetics.
+ Babadi, M.*, Fu, J. M.*, Lee, S. K.*, Smirnov, A. N.*, Gauthier, L. D., Walker, M., Benjamin, D. I., Zhao, X., Karczewski, K. J., Wong, I., Collins, R. L., Sanchis-Juan, A., Brand, H., Banks, E., Talkowski, M. E. GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
- Nature
+ Nature Genetics
- 581, 444–451 (2020).
-
- https://doi.org/10.1038/s41586-020-2287-8
-
+ . 55, 1589-1597 (2023).
+
+
+
+ https://doi.org/10.1038/s41588-023-01449-0
+
+
+
+ PMID:
+ 37604963
+
+ PMCID:
+ PMC10904014
+
- Cummings, B. B., Karczewski, K. J., Kosmicki, J. A., Seaby, E. G., Watts, N. A., Singer-Berk, M., Mudge, J. M., Karjalainen, J., Kyle Satterstrom, F., O’Donnell-Luria, A., Poterba, T., Seed, C., Solomonson, M., Alföldi, J., The Genome Aggregation Database Production Team, The Genome Aggregation Database Consortium, Daly, M. J., & MacArthur, D. G. Transcript expression-aware annotation improves rare variant interpretation.
-
+ Karczewski, K. J., Gauthier, L. D., & Daly, M. J. Technical artifact drives apparent deviation from Hardy-Weinberg equilibrium at CCR5-∆32 and other variants in gnomAD.
- Nature
+ bioRxiv
- 581, 452–458 (2020).
-
- https://doi.org/10.1038/s41586-020-2329-2
-
+ . (p. 784157).
+
+
+
+ https://doi.org/10.1101/784157
+
+
+
+
+
- Minikel, E. V., Karczewski, K. J., Martin, H. C., Cummings, B. B., Whiffin, N., Rhodes, D., Alföldi, J., Trembath, R. C., van Heel, D. A., Daly, M. J., Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Schreiber, S. L., & MacArthur, D. G. Evaluating potential drug targets through human loss-of-function genetic variation.
+ Atkinson, E. G.*, Artomov, M.*, Loboda, A. A., Rehm, H. L., MacArthur, D. G., Karczewski, K. J., Neale, B. M.†, Daly, M. J.†. Discordant calls across genotype discovery approaches elucidate variants with systematic errors.
- Nature
+ Genome Research
- 581, 459–464 (2020).
-
- https://doi.org/10.1038/s41586-020-2267-z
-
+ . 33, 999-1005 (2023).
+
+
+
+ https://doi.org/10.1101/gr.277908.123
+
+
+
+ PMID:
+ 37253541
+
+ PMCID:
+ PMC10519400
+
- Wang, Q., Pierce-Hoffman, E., Cummings, B. B., Karczewski, K. J., Alföldi, J., Francioli, L. C., Gauthier, L. D., Hill, A. J., O’Donnell-Luria, A. H., Genome Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD) Consortium, & MacArthur, D. G. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
+ Seaby, E. G., Thomas, N. S., Webb, A., Brittain, H., Taylor Tavares, A. L.; Genomics England Consortium; Baralle, D., Rehm, H. L., O'Donnell-Luria, A.†, Ennis, S.†. Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
+
+ Human Genetics
+
+ . 142, 351-362 (2023).
+
+
+
+ https://doi.org/10.1007/s00439-022-02509-x
+
+
+
+ PMID:
+ 36477409
+
+ PMCID:
+ PMC9950176
+
+
+
+
+
+ Pejaver, V. Byrne, A. B., Feng, B. J., Pagel, K. A., Mooney, S. D., Karchin, R., O'Donnell-Luria, A., Harrison, S. M., Tavtigian, S. V., Greenblatt, M. S., Biesecker, L. G., Radivojac, P., Brenner, S. E. ClinGen Sequence Variant Interpretation Working Group. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
+
+ American Journal of Human Genetics
+
+ . 109, 2163-2177 (2022).
+
+
+
+ https://doi.org/10.1016/j.ajhg.2022.10.013
+
+
+
+ PMID:
+ 36413997
+
+ PMCID:
+ PMC9748256
+
+
+
+
+
+ Seaby, E.G., Smedley, D., Taylor Tavares, A. L., Brittain, H., van Jaarsveld, R. H., Baralle, D., Rehm, H. L., O'Donnell-Luria, A., Ennis, S. Genomics England Research Consortium. A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.
+
+ Genetics Medicine
+
+ . 24, 1697-1707 (2022).
+
+
+
+ https://doi.org/10.1016/j.gim.2022.04.019
+
+
+
+ PMID:
+ 35532742
+
+
+
+
+ Laricchia, K. M.*, Lake, N. J.*, Watts, N. A., Shand, M., Haessly, A., Gauthier, L. D., Benjamin, D., Banks, E., Soto, J., Garimella, K., Emery, J., Genome Aggregation Database (gnomAD) Consortium, Rehm, H. L., MacArthur, D. G., Tiao, G.†, Lek, M.†, Mootha, V. K.†, Calvo, S. E.† Mitochondrial DNA variation across 56,434 individuals in gnomAD.
+
+ Genome Research
+
+ . 32, 569-582 (2022).
+
+
+
+ https://doi.org/10.1101/gr.276013.121
+
+
+
+ PMID:
+ 35074858
+
+
+
+
+ Gudmundsson, S., Singer-Berk, M., Watts, N. A., Phu, W., Goodrich, J. K., Solomonson, M., Genome Aggregation Database (gnomAD) Consortium, Rehm, H. L., MacArthur, D. G., O’Donnell-Luria, A. Variant interpretation using population databases: Lessons from gnomAD.
+
+ Human Mutation
+
+ . 43, 1012-1030 (2022).
+
+
+
+ https://doi.org/10.1002/humu.24309
+
+
+
+ PMID:
+ 34859531
+
+
+
+
+ Whiffin, N., Karczewski, K. J., Zhang, X., Chothani, S., Smith, M. J., Gareth Evans, D., Roberts, A. M., Quaife, N. M., Schafer, S., Rackham, O., Alföldi, J., O’Donnell-Luria, A. H., Francioli, L. C., Genome Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD) Consortium, Cook, S. A., Barton, P. J. R., MacArthur, D. G.†, & Ware, J. S.† Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals.
Nature Communications
- 11, 2539 (2020).
-
-
- https://doi.org/10.1038/s41467-019-12438-5
-
+ . 11, 2523 (2020).
+
+
+
+ https://doi.org/10.1038/s41467-019-10717-9
+
+
+
+ PMID:
+ 32461616
Nature Medicine
-
- (2020).
-
- https://doi.org/10.1038/s41591-020-0893-5
-
+ . 26, 869-877 (2020).
+
+
+
+ https://doi.org/10.1038/s41591-020-0893-5
+
+
+
+ PMID:
+ 32461697
- Whiffin, N., Karczewski, K. J., Zhang, X., Chothani, S., Smith, M. J., Gareth Evans, D., Roberts, A. M., Quaife, N. M., Schafer, S., Rackham, O., Alföldi, J., O’Donnell-Luria, A. H., Francioli, L. C., Genome Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD) Consortium, Cook, S. A., Barton, P. J. R., MacArthur, D. G.†, & Ware, J. S.† Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals.
+ Wang, Q., Pierce-Hoffman, E., Cummings, B. B., Karczewski, K. J., Alföldi, J., Francioli, L. C., Gauthier, L. D., Hill, A. J., O’Donnell-Luria, A. H., Genome Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD) Consortium, & MacArthur, D. G. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Nature Communications
- 11, 2523 (2020).
-
-
- https://doi.org/10.1038/s41467-019-10717-9
-
+ . 11, 2539 (2020).
+
+
+
+ https://doi.org/10.1038/s41467-019-12438-5
+
+
+
+ PMID:
+ 32461613
- Karczewski, K. J., Gauthier, L. D., & Daly, M. J. Technical artifact drives apparent deviation from Hardy-Weinberg equilibrium at CCR5-∆32 and other variants in gnomAD
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* contributed equally
diff --git a/browser/src/help/__snapshots__/HelpPage.spec.tsx.snap b/browser/src/help/__snapshots__/HelpPage.spec.tsx.snap
index 523545f1a..fb9d279a8 100644
--- a/browser/src/help/__snapshots__/HelpPage.spec.tsx.snap
+++ b/browser/src/help/__snapshots__/HelpPage.spec.tsx.snap
@@ -1249,6 +1249,37 @@ Below is a list of all features not included in the v4 MVP and where to find the
| Manual LoF curation | v2 variant table and variant page |
| Regional Missense Constraint | Now available on v2 gene page |
| Linkage disequilibrium scores | [v2](/downloads/#v2-linkage-disequilibrium) downloads |
+",
+ }
+ }
+ onClick={[Function]}
+ />
+