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Article

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.

Journal of human genetics - 1 Apr 2021

Fan Yanjie, Wang Lili, Sun Yu, Xu Ting, Gong Zhuwen, Zhao Qianfeng, Qiu Wenjuan, Liang Lili, Xiao Bing, Zhang Huiwen, Han Lianshu, Lin Fujun, Xu Rang, Gu Xuefan, Yu Yongguo

Abstract excerpt

Long continuous stretches of homozygosity (LCSH) are associated with risk of recessive disorders. Though LCSH can be detected by SNP microarrays, additional testing is necessary to clarify the clinical significance. This study is to assess the yield of additional exome sequencing (ES) after LCSH detection and inform the likelihood of eventual diagnosis. In 2226 patients referred to SNP microarrays, 35 patients...

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Share to DNA Copy Number Variations
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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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PMID: 33040084
DOI: 10.1038/s10038-020-00854-1

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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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