Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of...
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays
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Author / Creator
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 and Yu, Yongguo
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
Subjects
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Scope and Contents
Contents
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 diagn...
Alternative Titles
Full title
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays
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Record Identifier
TN_cdi_proquest_miscellaneous_2449992476
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2449992476
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-020-00854-1
