Ontology highlight
ABSTRACT:
SUBMITTER: Malcher C
PROVIDER: S-EPMC6136382 | biostudies-literature | 2018 Jul/Sept.
REPOSITORIES: biostudies-literature
Malcher Carolina C Yamamoto Guilherme L GL Burnham Philip P Ezquina Suzana A M SAM Lourenço Naila C V NCV Balkassmi Sahilla S Antonio David S Marco DSM Hsia Gabriella S P GSP Gollop Thomaz T Pavanello Rita C RC Lopes Marco Antonio MA Bakker Egbert E Zatz Mayana M Bertola Débora D Vlaminck Iwijn De I Passos-Bueno Maria Rita MR
Genetics and molecular biology 20180716 3
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40 mock samples, and eight mother-child pairs to generate 35 simulated datasets. Fetal fraction (FF) was estimated based on analysis of the single nucleotide polymorphism (SNP) allele fraction distribut ...[more]