Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series

Abstract Background Regions of homozygosity (ROH) are continuous homozygous segments commonly seen in the human genome. The integration of single nucleotide polymorphism (SNP) probes into current array comparative genomic hybridization (aCGH) analysis has enabled the detection of the ROH. However, f...

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Main Authors: Jiadi Wen, Kathleen Comerford, Zhiyong Xu, Weiqing Wu, Katherine Amato, Brittany Grommisch, Autumn DiAdamo, Fang Xu, Hongyan Chai, Peining Li
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2019-03-01
Colecção:Molecular Cytogenetics
Assuntos:
Regions of homozygosity (ROH)
Single nucleotide polymorphism (SNP) calling
Array comparative genomic hybridization (aCGH)
Acesso em linha:http://link.springer.com/article/10.1186/s13039-019-0424-6
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