Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series.
Jiadi WenKathleen ComerfordZhiyong XuWeiqing WuKatherine AmatoBrittany GrommischAutumn DiAdamoFang XuHongyan ChaiPeining LiPublished in: Molecular cytogenetics (2019)
With a quality control parameter of DLR set at below 0.2, the consistency of SNP calling would be 75%, the accuracy of SNP call could be 93%, and the observed chromosomal distribution of ROH could be used as a reference. This aCGH analysis could be a reliable screening tool to document biologically relevant ROH and recommend further molecular analysis.