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

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 det...

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Veröffentlicht in:	Journal of human genetics 2021-04, Vol.66 (4), p.409-417
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Arrays Chromosomes Congenital diseases Genetics Genetics & Heredity Heredity Life Sciences & Biomedicine Medicine Pediatrics Science & Technology
Online-Zugang:	Volltext
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