Exome sequencing of parent-offspring trios is a popular strategy for identifying causative
genetic variants in children with rare diseases. This method owes its strength to the …

Purpose Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain
limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD …

Whole exome sequencing and chromosomal microarrays are two powerful technologies that
have transformed the ability of researchers to search for potentially causal variants in human …

UPDtool is a computational tool for detection and classification of uniparental disomy (UPD)
in trio SNP-microarray experiments. UPDs are rare events of chromosomal malsegregation …

Purpose Uniparental disomy (UPD) is the rare occurrence of two homologous chromosomes
originating from the same parent and is typically identified by marker analysis or single …

Whole chromosomal and segmental uniparental disomy (UPD) is one of the causes of
imprinting disorder and other recessive disorders. Most investigations of UPD were …

Here, we present a protocol to analyze de novo genetic variants derived from the whole-
exome sequencing (WES) of proband-parent trios. We provide stepwise instructions for …

Genomic testing, including single-nucleotide variation (formerly single-nucleotide
polymorphism)–based chromosomal microarray and exome and genome sequencing, can …

Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in
humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy …