ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Uniparental disomy in a population of 32,067 clinical exome trios.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 55 citations in OpenAlex.
- Article
- Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.Research square · 2026Article
- UPDhmm: detecting uniparental disomy from NGS trio data.Bioinformatics (Oxford, England) · 2026Article
- Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.Diagnostics (Basel, Switzerland) · 2026Article
- Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach.Human reproduction open · 2026Article
- Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study.Journal of translational medicine · 2025Article
- Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygousBiomedical reports · 2025Article
- Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis.Molecular genetics & genomic medicine · 2025Article
- Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.Genetics in medicine open · 2025Article
- Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.Molecular genetics & genomic medicine · 2024Article
- An Incidental Detection of a Rare UPD in SNP-Array Based PGT-SR: A Case Report.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Automatized detection of uniparental disomies in a large cohort.Human genetics · 2024Article
- Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing.Forensic sciences research · 2024Article
- Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study.BMC pregnancy and childbirth · 2024Article
- Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.Scientific reports · 2024Article
- Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants inGlobal medical genetics · 2024Review
- Healthy Live Births after the Transfer of Mosaic Embryos: Self-Correction or PGT-A Overestimation?Genes · 2023Review
- Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.Human genome variation · 2023Article
- A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.Journal of human genetics · 2023Article
- Alström syndrome caused by maternal uniparental disomy.American journal of ophthalmology case reports · 2023Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeData on the clinical prevalence and spectrum of uniparental disomy (UPD) remain limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis.
methodsWe analyzed 32,067 ES trios referred for diagnostic testing to create a profile of UPD events and their disease associations. ES single-nucleotide polymorphism (SNP) and copy-number data were used to identify both whole-chromosome and segmental UPD and to categorize whole-chromosome results as isodisomy, heterodisomy, or mixed.
resultsNinety-nine whole-chromosome and 13 segmental UPD events were identified. Of these, 29 were associated with an imprinting disorder, and 16 were associated with a positive test result through homozygous sequence variants. Isodisomy was more commonly observed in large chromosomes along with a higher rate of homozygous pathogenic variants, while heterodisomy was more frequent in chromosomes associated with imprinting or trisomy mosaicism (14, 15, 16, 20, 22).
conclusionWhole-chromosome UPD was observed in 0.31% of cases, resulting in a diagnostic finding in 0.14%. Only three UPD-positive cases had a diagnostic finding unrelated to the UPD. Thirteen UPD events were identified in cases with prior normal SNP chromosomal microarray results, demonstrating the additional diagnostic value of UPD detection by trio ES.
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