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
Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0496-5
Abstract: BackgroundCurrently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations. The modern platforms also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions… read more here.
Keywords: chromosomal microarrays; contiguous stretches; long contiguous; microarrays cma ... See more keywords