Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing-Reference-Cited by-同舟云学术

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Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing

Published:2023-05-12 Issue:6 Volume:69 Page:545-547
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Luo Minjie¹²^ORCID,Conlin Laura K¹²,Rajagopalan Ramakrishnan¹²

Affiliation:

1. Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia , United States

2. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania , United States

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Link

https://academic.oup.com/clinchem/article-pdf/69/6/545/50497806/hvad044.pdf

Reference14 articles.

1. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen);Riggs;Genet Med,2020

2. Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3;Hoppman;Mol Cytogenet,2013

3. Frequency and clinical features of hearing loss caused by STRC deletions;Yokota;Sci Rep,2019

4. DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics;Vona;Clin Genet,2015

5. Allele-specific droplet digital PCR combined with a next-generation sequencing-based algorithm for diagnostic copy number analysis in genes with high homology: proof of concept using stereocilin;Amr;Clin Chem,2018

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