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Article

Cell-free DNA fragment-size distribution analysis for non-invasive prenatal CNV prediction.

Bioinformatics (Oxford, England) - 1 Jun 2016

Arbabi Aryan, Rampášek Ladislav, Brudno Michael

Abstract excerpt

BACKGROUND: Non-invasive detection of aneuploidies in a fetal genome through analysis of cell-free DNA circulating in the maternal plasma is becoming a routine clinical test. Such tests, which rely on analyzing the read coverage or the allelic ratios at single-nucleotide polymorphism (SNP) loci, are not sensitive enough for smaller sub-chromosomal abnormalities due to sequencing biases and paucity of SNPs in a...

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PMID: 27153615
DOI: 10.1093/bioinformatics/btw178

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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