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CNVnator — read-depth (RD) based copy number variation (CNV) detection from whole-genome sequencing BAM/CRAM files. Partitions the genome into equal-size bins, computes normalized read-depth signals,

3 shared topics • 2 shared operations

CNVpytor — Python tool for copy number variation (CNV) detection from whole-genome sequencing (WGS) BAM/CRAM files. Analyzes read depth signals with adjustable bin sizes, calls deletions and duplicati

3 shared topics • 2 shared operations

Use when working with bigsnpr — an R package for analysis of massive

3 shared topics • 1 shared operation

SHAPEIT4/5 — statistical haplotype phasing for SNP array and whole-genome sequencing data. SHAPEIT5 is the current production version, providing phasing of common variants (MAF >= 0.1%) via phase_comm

3 shared topics • 1 shared operation

vt — C++ command-line variant tool set for manipulating VCF files. Provides variant normalization (left-alignment and trimming), multiallelic decomposition, VCF summary statistics (peek), annotation,

3 shared topics • 1 shared operation