Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Noninvasive Whole-Genome Sequencing of a Human Fetus

6 Jun 2012

Abstract excerpt

Analysis of cell-free fetal DNA in maternal plasma holds promise for the development of noninvasive prenatal genetic diagnostics. Previous studies have been restricted to detection of fetal trisomies, to specific paternally inherited mutations, or to genotyping common polymorphisms using material obtained invasively, for example, through chorionic villus sampling. Here, we combine genome sequencing of two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cancer Genomics and Diagnostics
Share to Prenatal Screening and Diagnostics
Share to Renal and related cancers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 22674554
DOI: 10.1126/scitranslmed.3004323

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Noninvasive Whole-Genome Sequencing of a Human FetusPMID 22674554Read ↗

Noninvasive fetal genome sequencing: a primerSemantic proximity Read ↗

Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.Semantic proximity Read ↗

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.Semantic proximity Read ↗

Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.Semantic proximity Read ↗

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

Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Semantic proximity Read ↗

Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencingSemantic proximity Read ↗

Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNASemantic proximity Read ↗

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNASemantic proximity Read ↗

Noninvasive prenatal diagnosis empowered by high‐throughput sequencingSemantic proximity Read ↗

Utilizing non-invasive prenatal test sequencing data for human genetic investigation.Semantic proximity Read ↗

Advancements in Prenatal Genetics: Emerging Technologies and Evolving ApplicationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.