ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 95 papers, 1 of them a synthesis that pooled it.
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Who cites it
95 citing papers in PubMed, 1 synthesis or guideline pooled it, 227 citations in OpenAlex.
- Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.The Cochrane database of systematic reviews · 2017Pooled it
- Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.International journal of molecular sciences · 2026Review
- Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series.Molecular genetics & genomic medicine · 2026Article
- Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.BMC medical genomics · 2025Review
- Performance testing for the sensitivity and resolution of low-pass WGS for small CNV detection.BMC medical genomics · 2025Article
- ZIPcnv: accurate and efficient inference of copy number variations from shallow whole-genome sequencing.Bioinformatics (Oxford, England) · 2025Article
- A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis.Prenatal diagnosis · 2025Article
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- Prenatal diagnosis of 1q21.1 microdeletions and microduplications: a retrospective case series.Molecular cytogenetics · 2025Article
- Screening of triploid in miscarriage tissues using medium-coverage whole genome sequencing with a three-algorithm integrated approach.Journal of assisted reproduction and genetics · 2025Article
- SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype.Italian journal of pediatrics · 2025Article
- Detection ofFrontiers in cellular and infection microbiology · 2025Article
- Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.NPJ genomic medicine · 2024Article
- Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.Heliyon · 2024Article
- Genome Tunisia Project: paving the way for precision medicine in North Africa.Genome medicine · 2024Article
- Article
- Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.Scientific reports · 2024Article
- Validation and depth evaluation of recurrent neural network-based ultra low-pass genome sequencing for the detection of absence of heterozygosity: A multi-centre study of 409 cases.Clinical and translational medicine · 2024Article
- Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.BMC genomics · 2024Article
- Experience of copy number variation sequencing applied in spontaneous abortion.BMC medical genomics · 2024Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
19 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeChromosomal microarray analysis is the gold standard for copy-number variant (CNV) detection in prenatal and postnatal diagnosis. We aimed to determine whether next-generation sequencing (NGS) technology could be an alternative method for CNV detection in routine clinical application.
methodsGenome-wide CNV analysis (>50 kb) was performed on a multicenter group of 570 patients using a low-coverage whole-genome sequencing pipeline. These samples were referred for chromosomal analysis; CNVs (i.e., pathogenic CNVs, pCNVs) were classified according to the American College of Medical Genetics and Genomics guidelines.
resultsOverall, a total of 198 abortuses, 37 stillbirths, 149 prenatal, and 186 postnatal samples were tested. Our approach yielded results in 549 samples (96.3%). In addition to 119 subjects with aneuploidies, 103 pCNVs (74 losses and 29 gains) were identified in 82 samples, giving diagnostic yields of 53.2% (95% confidence interval: 45.8, 60.5), 14.7% (5.0, 31.1), 28.5% (21.1, 36.6), and 30.1% (23.6, 37.3) in each group, respectively. Mosaicism was observed at a level as low as 25%.
conclusionsPatients with chromosomal diseases or microdeletion/microduplication syndromes were diagnosed using a high-resolution genome-wide method. Our study revealed the potential of NGS to facilitate genetic diagnoses that were not evident in the prenatal and postnatal groups.Genet Med 18 9, 940-948.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.