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Article

scHaplotyper: haplotype construction and visualization for genetic diagnosis using single cell DNA sequencing data.

BMC bioinformatics - 1 Feb 2020

Yan Zhiqiang, Zhu Xiaohui, Wang Yuqian, Nie Yanli, Guan Shuo, Kuo Ying, Chang Di, Li Rong, Qiao Jie, Yan Liying

Abstract excerpt

BACKGROUND: Haplotyping reveals chromosome blocks inherited from parents to in vitro fertilized (IVF) embryos in preimplantation genetic diagnosis (PGD), enabling the observation of the transmission of disease alleles between generations. However, the methods of haplotyping that are suitable for single cells are limited because a whole genome amplification (WGA) process is performed before sequencing or...

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Identifiers

PMID: 32007105
DOI: 10.1186/s12859-020-3381-5
PMCID: PMC6995221

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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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