Article

Advanced whole genome sequencing and analysis of fetal genomes from amniotic fluid

2017-08-08

Abstract excerpt

Amniocentesis is typically performed to identify large chromosomal abnormalities within the fetus. Here we demonstrate that it is feasible to generate an accurate whole genome sequence (WGS) of a fetus from an amniotic sample. DNA from cells and the amniotic fluid were isolated and sequenced from 31 amniocenteses. Concordance of variant calls between the two DNA sources and with parental libraries was high. Two fe...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5dbc50ff-b12c-55ce-999a-251f8edabad6
DOI: 10.1101/173807

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Advanced whole genome sequencing and analysis of fetal genomes from amniotic fluidDOI 10.1101/173807Read

Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid.Semantic proximity Read

Recent advances in prenatal genetic screening and testingSemantic proximity Read

Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.Semantic proximity Read

Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.Semantic proximity Read

Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel SequencingSemantic proximity Read

Diagnostic Utility of Low-Pass Whole Genome Sequencing in Prenatal Detection of Chromosomal Abnormalities in an Indian CohortSemantic proximity Read

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical GeneticistsSemantic proximity Read

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-conceptSemantic proximity Read

Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencingSemantic proximity Read

Noninvasive Whole-Genome Sequencing of a Human FetusSemantic proximity Read

Noninvasive fetal genome sequencing: a primerSemantic proximity Read

Clinical diagnosis by whole-genome sequencing of a prenatal sample.Semantic proximity Read