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Article

Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.

BMC genomics - 15 Jan 2018

Koko Mahmoud, Abdallah Mohammed O E, Amin Mutaz, Ibrahim Muntaser

Abstract excerpt

BACKGROUND: The conventional variant calling of pathogenic alleles in exome and genome sequencing requires the presence of the non-pathogenic alleles as genome references. This hinders the correct identification of variants with minor and/or pathogenic reference alleles warranting additional approaches for variant calling. RESULTS: More than 26,000 Exome Aggregation Consortium (ExAC) variants have a minor...

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Identifiers

PMID: 29334895
DOI: 10.1186/s12864-018-4433-3
PMCID: PMC5769444

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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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