Sarek

Tools and workflows for accessing, querying, and analyzing data from the 1000 Genomes Project (1KGP) — the largest public catalog of human genetic variation with whole-genome sequences from 3,202 indi

2 shared topics • 2 shared operations

GATK (Genome Analysis Toolkit) — the industry-standard framework for variant discovery in high-throughput sequencing data. Covers the gatk command-line wrapper, Java/JVM tuning, resource bundle manage

2 shared topics • 2 shared operations

Nirvana — Clinical-grade genomic variant annotation tool by Illumina that processes VCF files and outputs structured JSON with transcript consequences, population frequencies, pathogenicity scores, an

2 shared topics • 2 shared operations

sigmap is a C++ tool for signal-level alignment of nanopore sequencing data, mapping raw electrical signals (squiggles) directly to a reference genome without basecalling. Uses Dynamic Time Warping (D

2 shared topics • 2 shared operations

SnpSift -- Java-based toolset for filtering, annotating, and manipulating annotated VCF files from SnpEff or other variant callers. Provides expression-based filtering (filter), database annotation wi

2 shared topics • 2 shared operations