Minimap2

Use when performing HLA typing from RNA-seq data with arcasHLA. Covers extracting HLA reads from STAR-aligned BAMs, high-resolution genotyping at 6-digit allele level, partial genotyping for low-cover

2 shared topics • 2 shared operations

GATK4 — Genome Analysis Toolkit for germline and somatic short variant discovery (SNPs and indels). Industry-standard caller providing HaplotypeCaller for germline, Mutect2 for somatic, plus Base Qual

2 shared topics • 2 shared operations

Loom — HDF5-based file format and Python library (loompy) for storing and accessing large single-cell RNA-seq datasets. Supports sparse/dense matrices, row attributes (genes/features), column attribut

2 shared topics • 2 shared operations

MAKER — portable genome annotation pipeline that integrates ab initio gene predictors (SNAP, Augustus, GeneMark), protein and EST evidence alignment, and repeat masking to produce GFF3 gene models wit

2 shared topics • 2 shared operations

Novocraft suite — short-read alignment and BAM sorting for DNA-seq and RNA-seq. novoalign maps Illumina, Ion Torrent, and 454 reads to indexed reference genomes with Smith-Waterman scoring for high-ac

2 shared topics • 2 shared operations