ArticleAmerican journal of medical genetics. Part A2023
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Article in American journal of medical genetics. Part A, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.Frontiers in medicine · 2026Article
- Unveiling genomic rearrangements in engineered iPSC lines by optical genome mapping.Molecular therapy. Methods & clinical development · 2025Article
- Mosaic deletions detected by genome sequencing in two families.Journal of human genetics · 2025Article
- Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- A Study and Analysis of Disease Identification using Genomic Sequence Processing Models: An Empirical Review.Current genomics · 2023Review
- Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.Clinical genetics · 2023Article
- Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.medRxiv : the preprint server for health sciences · 2023Article
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.bioRxiv : the preprint server for biology · 2023Article
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Authors and funding
26 authors at 7 institutions in 1 country.
Funding
Abstract
The increased use of next-generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS) and/or targeted gene panels (TGPs) were considered to be causative for the proband's phenotype, and two of apparent parental mosaicism. Variants were identified in the following genes: PHACTR1, SCN8A, KCNT1, CDKL5, NEXMIF, CUX1, TSC2, GABRB2, and SMARCB1. In addition, we identified one large duplication including three genes, UBE3A, GABRB3, and MAGEL2, and one large deletion including deletion of ARFGAP1, EEF1A2, CHRNA4, and KCNQ2. All patients were enrolled in the NYCKidSeq study, a research program studying the communication of genomic information in clinical care, as well as the clinical utility and diagnostic yield of GS for children with suspected genetic disorders in diverse populations in New York City. We observed variability in the correlation between reported variant allele fraction and the severity of the patient's phenotype, although we were not able to determine the mosaicism percentage in clinically relevant tissue(s). Although our study was not sufficiently powered to assess differences in mosaicism detection between the two testing modalities, we saw a trend toward better detection by GS as compared with TGP testing. This case series supports the importance of mosaicism in childhood-onset genetic conditions and informs guidelines for laboratory and clinical interpretation of mosaic variants detected by GS.
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