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Article

Grandparental genotyping enhances exome variant interpretation.

American journal of medical genetics. Part A - 1 Apr 2020

Daum Hagit, Mor-Shaked Hagar, Ta-Shma Asaf, Shaag Avraham, Silverstein Shira, Shohat Mordechai, Elpeleg Orly, Meiner Vardiella, Harel Tamar

Abstract excerpt

Trio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental diagnostic yield over proband-only sequencing, mainly due to the rapid identification of de novo disease-causing variants. However, heterozygous variants inherited from unaffected parents may be inadvertently dismissed, although multiple explanations are available for such scenarios including...

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PMID: 32027463
DOI: 10.1002/ajmg.a.61511

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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