Curated databases expand variant, haplotype, and immune receptor reference resources

Published papers

• IMGT® at scale: FAIR, dynamic, and automated tools for immune locus analysis.

  Nucleic acids research2026-01-06Gaoussou Sanou et al.

  IMGT reports new automated, FAIR-aligned tools for immunoglobulin and TCR locus analysis, including genomic resources, repertoire tools, peptide-MHC…

• The current landscape of adaptive immune receptor genomic and repertoire data: OGRDB and VDJbase.

  Nucleic acids research2026-01-06William D Lees et al.

  Updates to two community resources, OGRDB and VDJbase, for curated germline immune receptor reference sequences supporting repertoire sequencing analysis…

• ClinMAVE: a curated database for clinical application of data from multiplexed assays of variant effect.

  Nucleic acids research2026-01-06Chenyu Ma et al.

  ClinMAVE is a curated database harmonizing multiplexed variant-effect assay data for 2.1M+ variants across 821 genes, with ACMG/AMP evidence grading and…

• HapScoreDB: a database of protein language model functional scores for haplotype-resolved protein sequences.

  Nucleic acids research2026-01-06Fabio Mazza et al.

  HapScoreDB provides protein language model fitness scores for phased haplotype-resolved protein sequences across human transcript isoforms, built from GENCODE,…

• FAVOR 2.0: A reengineered functional annotation of variants online resource for interpreting genomic variation.

  Nucleic acids research2026-01-06Hufeng Zhou et al.

  FAVOR 2.0 is an updated whole-genome variant annotation database with expanded tissue/cell-type annotations, an API, hg38/hg19 support, a genome browser, and…

• SeekPCMdb: knowledge on disease-associated protein-coding mutations.

  Nucleic acids research2026-01-06Peng Yang et al.

  SeekPCMdb is a literature-derived database of disease-associated protein-coding mutations, built with semi-automated curation and LLM-assisted extraction from…

• JoGo 1.0: the ACTG hierarchical nomenclature and database covering 4.7 million haplotypes across 19,194 human genes.

  Nucleic acids research2026-01-06Masao Nagasaki et al.

  JoGo 1.0 is a long-read human haplotype database covering 19,194 MANE genes, with a frequency-ranked ACTG nomenclature linking ClinVar, GWAS and GTEx variants…

• SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human tissues.

  Nucleic acids research2026-01-06Anthony Shea et al.

  Recent advances in ultra-accurate sequencing technologies have revealed that somatic mutations accumulate throughout the human lifespan and may contribute to bo

• The IGVF catalog-from genetic variation to function.

  Nucleic acids research2026-01-06Daofeng Li et al.

  IGVF Catalog: an open-source graph database (~3B nodes, 7.5B edges) with API and interface linking genomic variants to protein abundance, enhancer activity,…

• TCRdb 2.0: an updated T-cell receptor sequence database.

  Nucleic acids research2026-01-06Tao Yue et al.

  T-cell receptor (TCR) repertoire sequencing allows researchers to analyze millions of TCRs, providing unparalleled precision in understanding immune responses a

• Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.

  Nucleic acids research2026-01-06Zhaopo Zhu et al.

  De novo mutations (DNMs) drive evolution and increase biodiversity, yet concurrently act as a cryptic cause of numerous genetic diseases.

Related topics

• Cell Type Resolved Omics Atlases
• Variant Effect Interpretation Resources
• Genetic Architecture Knowledgebases

Topic history