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Article

Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.

BMC genomics - 14 May 2024

Tang Fei, Wang Zhonghua, Sun Yan, Fan Linlin, Yang Yun, Guo Xueqin, Wang Yaoshen, Yan Saiying, Qiao Zhihong, Li Yun, Jiang Ting, Wang Xiaoli, Man Jianfen, Wang Lina, Wang Shunyao, Peng Huanhuan, Peng Zhiyu, Xie Xiaoyuan, Song Lijie

Abstract excerpt

BACKGROUND: The absence of heterozygosity (AOH) is a kind of genomic change characterized by a long contiguous region of homozygous alleles in a chromosome, which may cause human genetic disorders. However, no method of low-pass whole genome sequencing (LP-WGS) has been reported for the detection of AOH in a low-pass setting of less than onefold. We developed a method, termed CNVseq-AOH, for predicting the...

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Share to Genome, Human
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 38745141
DOI: 10.1186/s12864-024-10400-4
PMCID: PMC11092001

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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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