ClinVar Tools

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 • 1 shared operation

cyvcf2 — fast Cython-wrapped htslib library for reading, writing, and querying VCF/BCF variant files in Python. Provides numpy-backed genotype arrays (gt_types, gt_ref_depths, gt_alt_depths, gt_quals,

2 shared topics • 1 shared operation

DeepVariant — CNN-based variant caller that converts aligned reads into pileup image tensors and classifies them with a deep neural network to produce SNP and indel calls in VCF/gVCF format. Supports

2 shared topics • 1 shared operation

Poetry is the Python dependency management and packaging tool for creating reproducible projects with pyproject.toml and poetry.lock. Use this skill for dependency resolution, virtual environment isol

2 shared topics • 1 shared operation

PubMed Database — NCBI's comprehensive biomedical literature database providing free access to over 37 million citations from MEDLINE, life science journals, and online books. Query via E-utilities RE

2 shared topics • 1 shared operation