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tobiasrausch committed Apr 25, 2024
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Expand Up @@ -22,11 +22,11 @@ <h3>Schedule</h3>
<li><a href="https://gear-genomics.embl.de/data/.slides/Lecture3_StructuralVariants.pdf">Lecture3 - Structural Variants</a></li>
<li><a href="https://gear-genomics.embl.de/data/.slides/Lecture4_Epigenetics.pdf">Lecture4 - Cancer Epigenetics</a></li>
<li>Wednesday 24th April, 9am-4pm: Biocev day (Lectures and Practicals)</li>
<li>Thursday 2th May, 12pm-2pm: Single-cell lecture (Zoom)</li>
<li>Thursday 9th May: Exercises and Questionnaires are due</li>
<li>Thursday 2th May, 12pm-2pm: RNA-Seq and scRNA-Seq lectures (Zoom)</li>
<li>Thursday 16th May: Exercises and Questionnaires are due</li>
</ul>

<h3>Exercise 1: Variant Calling (due date 24th April 2024)</h3>
<h3>Exercise 1: Variant Calling (due date 2nd May 2024)</h3>

Please create a GitHub account or login to your existing account and create a new repository to analyse sequencing data. The goal of this exercise is to create a simple variant calling workflow for human sequencing data. Please describe the steps of your workflow using markdown (<a href="https://docs.github.com/en/get-started/writing-on-github">GitHub Markdown</a>). The workflow should contain steps to align the FASTQ files to the human reference genome (<a href="https://github.com/lh3/bwa">bwa</a>), call variants (<a href="https://samtools.github.io/bcftools/howtos/variant-calling.html">bcftools</a>) and annotate all single-nucleotide variants with (<a href="https://www.ensembl.org/Tools/VEP">VEP</a>). For this excercise you can ignore all InDels. Once you have finished the exercise, send me the repository URL of your GitHub repository and the likely causative variant via email.

Expand All @@ -36,7 +36,7 @@ <h3>Exercise 1: Variant Calling (due date 24th April 2024)</h3>
<li>FASTQ of read2, <a href="https://gear-genomics.embl.de/data/.slides/R2.fastq.gz">Read2</a></li>
</ul>

<h3>Exercise 2: Cancer Genomics Data Analysis (due date 24th April 2024)</h3>
<h3>Exercise 2: Cancer Genomics Data Analysis (due date 2nd May 2024)</h3>
In this exercise we want to analyze a cancer genomics sample, namely a paired tumor-normal sample pair.
You can download the data set <a href="https://gear-genomics.embl.de/data/.exercise/">here</a>.
The main objective of this exercise is to align the data to the human reference genome (<a href="https://hgdownload.soe.ucsc.edu/goldenPath/hg19/bigZips/hg19.fa.gz">https://hgdownload.soe.ucsc.edu/goldenPath/hg19/bigZips/hg19.fa.gz</a>), to sort and index the alignments and to generate a read-depth plot, as discussed in the lectures. Please note that I downsampled the dataset and I also just kept the data for chromosome X from 20Mbp to 40Mbp (GRCh37/hg19 coordinates) because otherwise all analysis take a lot of time for a human genome. Once you have generated the alignment in BAM format you can subset the BAM to the region of interest using `samtools view -b input.bam chrX:20000000-40000000 > output.bam`.
Expand All @@ -49,15 +49,15 @@ <h3>Exercise 2: Cancer Genomics Data Analysis (due date 24th April 2024)</h3>
**Optional**: Once you have successfully computed a read-depth plot you may also want to call structural variants and overlay these with the read-depth plot as arcs or points that indicate SV breakpoints.


<h3>Exercise 3: Working with count matrices (due date 9th May 2024)</h3>
<h3>Exercise 3: Working with count matrices (due date 16th May 2024)</h3>
In this exercise we want to run a differential gene expression analysis using an RNA-Seq count matrix (<a href="https://gear-genomics.embl.de/data/.slides/sample.counts">sample.counts</a>).
The sample metadata is available here: <a href="https://gear-genomics.embl.de/data/.slides/sample.info">sample.info</a>.
Starting from an <a href="https://gear-genomics.embl.de/data/.slides/template.R">Rscript template</a> please run a differential expression analysis, generate PCA, Heatmap and MA-plots and export the results into a CSV file.
Once you are done please upload your Rscript to your GitHub repository and email me again the repository link, thanks!
<br>
**Optional**: You may also want to run a gene set enrichment analysis on the differentially expressed genes.

<h3>Exercise 4: Fill out the questionnaires (Google Forms, due date 9th May 2024)</h3>
<h3>Exercise 4: Fill out the questionnaires (Google Forms, due date 16th May 2024)</h3>

To be sent via email on the 25th or 26th April.

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