Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.
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Jan 20, 2023 - R
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variant-annotation
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Add functional variant annotation to MAF file
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Nov 20, 2024 - R
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Feb 28, 2025 - R
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.
bioinformatics snps vcf gatk variant-calling bam population-genetics samtools bwa genome-analysis indels bcftools variant-annotation reference-genome exome-sequencing 1000genomes snpeff haplotypecaller human-genome gatk4-haplotypecaller
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Nov 26, 2024 - R
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