SAVANA

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

1 shared topic • 2 shared operations

DADA2 — high-resolution amplicon sequence variant (ASV) inference from Illumina, 454, and Ion Torrent amplicon sequencing data. R/Bioconductor package that models sequencing errors to resolve exact bi

1 shared topic • 2 shared operations

Dysgu — structural variant caller for paired-end and long-read sequencing data (Illumina, PacBio HiFi, Oxford Nanopore). Detects deletions, insertions, duplications, inversions, and translocations fro

1 shared topic • 2 shared operations

GATK VQSR (Variant Quality Score Recalibration) — machine learning-based variant filtering for GATK Best Practices germline pipelines. Trains a Gaussian mixture model on truth/training resource datase

1 shared topic • 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

1 shared topic • 2 shared operations