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

Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing.

Bioinformatics (Oxford, England) - 15 Jun 2014

Rampášek Ladislav, Arbabi Aryan, Brudno Michael

Abstract excerpt

MOTIVATION: The past several years have seen the development of methodologies to identify genomic variation within a fetus through the non-invasive sequencing of maternal blood plasma. These methods are based on the observation that maternal plasma contains a fraction of DNA (typically 5-15%) originating from the fetus, and such methodologies have already been used for the detection of whole-chromosome events...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Computer Simulation
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genome, Human

Share to Models, Statistical

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 24931986
DOI: 10.1093/bioinformatics/btu292
PMCID: PMC4058944

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing.PMID 24931986Read ↗

Cell-free DNA fragment-size distribution analysis for non-invasive prenatal CNV prediction.Semantic proximity Read ↗

Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.Semantic proximity Read ↗

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant womenSemantic proximity Read ↗

Noninvasive Prenatal Molecular Karyotyping from Maternal PlasmaSemantic proximity Read ↗

Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screeningSemantic proximity Read ↗

Genomic Analysis of Fetal Nucleic Acids in Maternal BloodSemantic proximity Read ↗

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.Semantic proximity Read ↗

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencingSemantic proximity Read ↗

Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNASemantic proximity Read ↗

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA SequencingSemantic proximity Read ↗

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

Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic diseaseSemantic proximity Read ↗

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