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astyanax-genome-paper

Scripts and workflows used in Warren et al. (2021)

This repository contains scripts and workflow used to analyze deletions in the paper: Warren et al. (2021) "A chromosome level genome of Astyanax mexicanus surface fish for comparing population-specific genetic differences contributing to trait evolution." Nature Communications 12:1447.

Generating structural variant calls

We generated structural variant calls with short reads for all of the libraries listed in library_list.txt, using two short-read SV-callers: manta and lumpy. For lumpy, we used the smoove pipeline as recommended. nextflow workflows for both are in 1-generate-sv-calls. Please refer to the webpages for these software packages for requirements and installation instructions.

Filtering structural variant calls

We filtered the structural variant calls generated by manta and lumpy to include only deletions within the size range (500,100000). A shell script for this is in 2-filter-sv-calls.

Analyzing and counting structural variant calls

We analyzed the deletion calls by counting the numbers of deletions per sample, merging the lumpy and manta results, and annotating the deletions based on whether they contain intronic, regulatory, or coding sequence, as described in the manuscript. Python scripts for counting, merging, and annotating are in 3-analyze-sv-calls, as well as a bash script containing the commands we used to run these programs.

More information

Please consult the paper for more information about the methods and results, and direct questions to the corresponding authors.