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Showing module(s) with keyword "haplotype"

Module Keywords Description
nf-core/gatk4/haplotypecaller gatk4 haplotype haplotypecaller Call germline SNPs and indels via local re-assembly of haplotypes
nf-core/gatk4/mutect2 gatk4 haplotype indels mutect2 snvs somatic Call somatic SNVs and indels via local assembly of haplotypes.
nf-core/happy/happy happy benchmark haplotype validation Hap.py is a tool to compare diploid genotypes at haplotype level. Rather than comparing VCF records row by row, hap.py will generate and match alternate sequences in a superlocus. A superlocus is a small region of the genome (sized between 1 and around 1000 bp) that contains one or more variants.
nf-core/happy/prepy happy benchmark haplotype Pre.py is a preprocessing tool made to preprocess VCF files for Hap.py
nf-core/happy/sompy happy sompy benchmark haplotype validation somatic variants Hap.py is a tool to compare diploid genotypes at haplotype level. som.py is a part of hap.py compares somatic variations.
nf-core/mitorsaw/haplotype heteroplasmy homoplasmy mitochondrial mitorsaw haplotype Mitorsaw analyses mitochondrial variants and identifies heteroplasmy and homoplasmy
nf-core/sentieon/haplotyper sentieon haplotypecaller haplotype Runs Sentieon's haplotyper for germline variant calling.
nf-core/shapeit5/ligate ligate haplotype shapeit Ligate multiple phased BCF/VCF files into a single whole chromosome file. Typically run to ligate multiple chunks of phased common variants.
nf-core/shapeit5/phasecommon phasing haplotype shapeit Tool to phase common sites, typically SNP array data, or the first step of WES/WGS data.
nf-core/shapeit5/phaserare phasing rare variants haplotype shapeit Tool to phase rare variants onto a scaffold of common variants (output of phase_common / ligate). Require feature AVX2.