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Article

Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021

Dong Zirui, Chau Matthew Hoi Kin, Zhang Yanyan, Yang Zhenjun, Shi Mengmeng, Wah Yi Man, Kwok Yvonne K, Leung Tak Yeung, Morton Cynthia C, Choy Kwong Wai

Abstract excerpt

PURPOSE: Absence of heterozygosity (AOH) is a genetic characteristic known to cause human genetic disorders through autosomal recessive or imprinting mechanisms. However, the analysis of AOH via low-pass genome sequencing (GS) is not yet clinically available. METHODS: Low-pass GS (fourfold) with different types of libraries was performed on 17 clinical samples with previously ascertained AOH by chromosomal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33772221
DOI: 10.1038/s41436-021-01128-7
PMCID: PMC8522200

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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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