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

Detection of Chromosomal Aneuploidy Using Exome Sequencing

23 Aug 2025

Abstract excerpt

Background: Chromosomal aneuploidy, characterized by an abnormal number of chromosomes, represents a significant cause of genetic disorders. While karyotyping and chromosomal microarray analysis (CMA) are established diagnostic approaches, they are limited by cost and extended turnaround times. Advances in exome sequencing (ES) bioinformatics enable detection of chromosomal aneuploidy alongside single-nucleotide...

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 Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 41009938
DOI: 10.3390/genes16090992

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of Chromosomal Aneuploidy Using Exome SequencingPMID 41009938Read ↗

KaryoScan: abnormal karyotype detection from whole-exome sequenceSemantic proximity Read ↗

Mosaic chromosomal aneuploidy detection by sequencing (MAD-seq)Semantic proximity Read ↗

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.Semantic proximity Read ↗

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

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnosticsSemantic proximity Read ↗

The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidySemantic proximity Read ↗

DNA Sequencing versus Standard Prenatal Aneuploidy ScreeningSemantic proximity Read ↗

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 casesSemantic proximity Read ↗

Mosaic autosomal aneuploidies are detectable from single-cell RNAseq data.Semantic proximity Read ↗

Detection of Chromosomal Aneuploidy in Human Preimplantation Embryos by Next-Generation Sequencing1Semantic proximity Read ↗

Newborn Genomic Screening Detects Chromosomal AneuploidiesSemantic proximity Read ↗

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseasesSemantic proximity Read ↗

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