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Projects in Awesome Lists tagged with exome-sequencing

A curated list of projects in awesome lists tagged with exome-sequencing .

https://github.com/sdhutchins/vcf-prepping

Scripts used on a cluster that demonstrate vcf file manipulation and preparation.

bcftools exome-sequencing vcf wgs whole-genome-sequencing

Last synced: 22 Dec 2024

https://github.com/pasted/variant_parser

Selects possible pathogenic variants from an Alamut output

exome-sequencing hpo variant-parser variants

Last synced: 07 Nov 2024

https://github.com/pasted/trio_generator

Example workflow to generate a trio VCF from parental data

bioinformatics exome-sequencing genetics

Last synced: 07 Nov 2024

https://github.com/giatraskon/chromosome11-variantcalling-gatk

A streamlined pipeline for germline variant calling on chromosome 11 using GATK. This repository includes workflows for data preprocessing, variant discovery, and annotation, with a focus on understanding genetic variations linked to disease-associated genes.

1000genomes bam bcftools bioinformatics bwa exome-sequencing gatk gatk4-haplotypecaller genome-analysis haplotypecaller human-genome indels population-genetics reference-genome samtools snpeff snps variant-annotation variant-calling vcf

Last synced: 13 Dec 2024