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@dglemos dglemos released this 29 Apr 16:14
· 15 commits to release/100 since this release
release/100.0
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Learn about vigilant mode.

New in version 100 (April 2020)

Human GRCh37 variant and phenotype data has been updated with multiple data sets including dbSNP153, ClinVar’s 201912 release and COSMIC release 90
The GRCh37 RefSeq transcript set has been updated to NCBI's 1st November 2019 release (initially annotated on GCF_000001405.25)!

New VEP options:

--shift_3prime: Right aligns all variants relative to their associated transcripts prior to consequence calculation
--shift_genomic: Right aligns all variants, including intergenic variants, before consequence calculation and updates the Location field

New VEP plugins:

SpliceAI: SpliceAI is a deep neural network, developed by Illumina, Inc that predicts splice junctions from an arbitrary pre-mRNA transcript sequence.
DisGeNET: DisGeNET is a database containing human variant-disease associations.

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