Ontology highlight
ABSTRACT:
SUBMITTER: Punj S
PROVIDER: S-EPMC5992121 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Punj Sumit S Akkari Yassmine Y Huang Jennifer J Yang Fei F Creason Allison A Pak Christine C Potter Amiee A Dorschner Michael O MO Nickerson Deborah A DA Robertson Peggy D PD Jarvik Gail P GP Amendola Laura M LM Schleit Jennifer J Simpson Dana Kostiner DK Rope Alan F AF Reiss Jacob J Kauffman Tia T Gilmore Marian J MJ Himes Patricia P Wilfond Benjamin B Goddard Katrina A B KAB Richards C Sue CS
American journal of human genetics 20180510 6
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the ...[more]