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Article

M2SG: mapping human disease-related genetic variants to protein sequences and genomic loci.

Bioinformatics (Oxford, England) - 15 Nov 2013

Ji Renkai, Cong Qian, Li Wenlin, Grishin Nick V

Abstract excerpt

SUMMARY: Online Mendelian Inheritance in Man (OMIM) is a manually curated compendium of human genetic variants and the corresponding phenotypes, mostly human diseases. Instead of directly documenting the native sequences for gene entries, OMIM links its entries to protein and DNA sequences in other databases. However, because of the existence of gene isoforms and errors in OMIM records, mapping a specific OMIM...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24002112
DOI: 10.1093/bioinformatics/btt507
PMCID: PMC3810852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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