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Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2015

Jang Mi-Ae, Lee Sang-Heon, Kim Namshin, Ki Chang-Seok

Abstract excerpt

PURPOSE: One of the biggest challenges of exome and genome sequencing in the era of genomic medicine is the identification and reporting of secondary findings. In this study we investigated the frequency and spectrum of actionable pathogenic secondary findings in Korean exomes. METHODS: Data from 196 Korean exomes were screened for variants from a list of 56 genes recommended by the American College of Medical...

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Source

Identifiers

PMID: 25856671
DOI: 10.1038/gim.2015.26

Genes

MUTYH

Provenance

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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