A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome.

ABSTRACT:

Background

Williams syndrome ([WS], 7q11.23 hemideletion) and 7q11.23 duplication syndrome (Dup7) show contrasting syndromic symptoms. However, within each group there is considerable interindividual variability in the degree to which these phenotypes are expressed. Though software exists to identify areas of copy number variation (CNV) from commonly-available SNP-chip data, this software does not provide non-diploid genotypes in CNV regions. Here, we describe a method for identifying haploid and triploid genotypes in CNV regions, and then, as a proof-of-concept for applying this information to explain clinical variability, we test for genotype-phenotype associations.

Methods

Blood samples for 25 individuals with WS and 13 individuals with Dup7 were genotyped with Illumina-H

SUBMITTER: Gregory MD 

PROVIDER: S-EPMC5883342 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature