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Article

Inferred inheritance of MorbidMap genes without OMIM clinical synopsis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018

Shakir Aamina, Ripperger Michael, Jiang Zhijie, Wierenga Klaas J

Abstract excerpt

PurposeThe Genomic Oligoarray and SNP Array Evaluation Tool 3.0 matches candidate genes within regions of homozygosity with a patient's phenotype, by mining OMIM for gene entries that contain a Clinical Synopsis. However, the tool cannot identify genes/disorders whose OMIM entries lack a descriptor of the mode of (Mendelian) inheritance. This study aimed to improve the tool's diagnostic power by building a...

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Identifiers

PMID: 28837159
DOI: 10.1038/gim.2017.131

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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