dbSNP
☆143Jun 21, 2024Updated last year
Alternatives and similar repositories for dbsnp
Users that are interested in dbsnp are comparing it to the libraries listed below
Sorting:
- HGVS variant nomenclature checker☆98May 1, 2023Updated 2 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- Library for indexing VCF files for random access searches by rsID☆17Feb 2, 2026Updated last month
- Genetic correlation calculation pipeline via summary statistics for PheWeb☆13Mar 22, 2019Updated 6 years ago
- Command line tools for CMDB varaints browser☆23May 14, 2024Updated last year
- GWAS Catalog Ontology and Curation Infrastructure☆26Feb 17, 2026Updated 2 weeks ago
- dbVar☆40Sep 13, 2022Updated 3 years ago
- Variant call adjudication☆16Jun 13, 2024Updated last year
- Read CRAM v3 and v2 in node or in the browser☆18Feb 14, 2026Updated 2 weeks ago
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆40Aug 17, 2021Updated 4 years ago
- A set of tools to annotate VCF files with expression and readcount data☆30Jan 30, 2026Updated last month
- ClinVar aggregates information about genomic variation and its relationship to human health. Contact us at 'clinvar@ncbi.nlm.nih.gov…☆83Feb 19, 2026Updated last week
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- Deduplication for cfDNA sequencing data☆11Jul 5, 2017Updated 8 years ago
- A fork of the project Excavator2 from sourceforge.☆10Jun 29, 2017Updated 8 years ago
- Header-only, gzread-like reader for gzip, bz2, and xz.☆11Aug 8, 2018Updated 7 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 9 months ago
- Retrieving HGNC gene symbol reports (human genes only) via a list of gene IDs.☆22Oct 15, 2025Updated 4 months ago
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Apr 7, 2022Updated 3 years ago
- ☆20Nov 30, 2023Updated 2 years ago
- Hidden Markov Model based Copy number caller☆20Dec 9, 2025Updated 2 months ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Jan 28, 2026Updated last month
- gnomAD browser pre-ASHG 2018☆33Nov 2, 2020Updated 5 years ago
- A tool to detect postzygotic single-nucleotide mosaicism from unpaired, trio, or paired samples.☆13Feb 23, 2021Updated 5 years ago
- CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data☆12Nov 9, 2025Updated 3 months ago
- Probabilistic HLA typing☆35Aug 31, 2019Updated 6 years ago
- Towards fast and accurate SNP genotyping from whole genome sequencing data for bedside diagnostics.☆22Feb 10, 2019Updated 7 years ago
- UNDER CONSTRUCTION: A pipeline for Genome Wide Association Studies☆27May 13, 2025Updated 9 months ago
- A software package for calculating, applying, evaluating and plotting the results of polygenic risk scores☆202Aug 21, 2024Updated last year
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆71Feb 6, 2026Updated 3 weeks ago
- Workflows for germline short variant discovery with GATK4☆139May 7, 2021Updated 4 years ago
- Detect novel (and reference) STR expansions from short-read data☆70Dec 6, 2025Updated 2 months ago
- A tool set for short variant discovery in genetic sequence data.☆204May 4, 2021Updated 4 years ago
- VariantStore: A Large-Scale Genomic Variant Search Index☆39Jul 9, 2021Updated 4 years ago
- an R package for ancestry analysis☆37Jan 9, 2019Updated 7 years ago
- MEM mapper prototype☆13Nov 28, 2020Updated 5 years ago
- Visualisation and prioritisation of genomic variants from human exome sequencing projects☆13Apr 23, 2019Updated 6 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Dec 17, 2021Updated 4 years ago
- R htmlwidget package for ideogram.js☆15Oct 26, 2022Updated 3 years ago