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

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, for detec...

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Detalles Bibliográficos
Autores principales: Wen, Jiadi, Comerford, Kathleen, Xu, Zhiyong, Wu, Weiqing, Amato, Katherine, Grommisch, Brittany, DiAdamo, Autumn, Xu, Fang, Chai, Hongyan, Li, Peining
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404290/
https://www.ncbi.nlm.nih.gov/pubmed/30886647
http://dx.doi.org/10.1186/s13039-019-0424-6