Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of human genetics"
DOI: 10.1038/s10038-020-00854-1
Abstract: 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… read more here.
Keywords: continuous stretches; detection; stretches homozygosity; long continuous ... See more keywords