The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism-Reference-Cited by-同舟云学术

The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism

Published:2020-05 Issue:5 Volume:22 Page:670-678
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Brewer Casey J.^ORCID,Gillespie Meghan,Fierro Joseph^ORCID,Scaringe William A.,Li Jie (Mickey),Lee Che-yu,Yen Hai-Yun^ORCID,Gao Hanlin,Strom Samuel P.^ORCID

Funder

Fulgent Genetics

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference38 articles.

1. Molecular genetic testing and the future of clinical genomics;Katsanis;Nat Rev Genet,2013

2. Risk of misdiagnosis due to allele dropout and false-positive PCR artifacts in molecular diagnostics: analysis of 30,769 genotypes;Blais;J Mol Diagn,2015

3. Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization;Eno;Genet Med,2019

4. Systematic evaluation of Sanger validation of next-generation sequencing variants;Beck;Clin Chem,2016

5. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques;Rohlin;Hum Mutat,2009

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data;Genetics in Medicine;2024-10

2. Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals;The American Journal of Human Genetics;2023-04

3. Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2;Genes;2023-02-15

4. Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations;Journal of Medical Genetics;2023-01-27

5. Detection of mosaic variants using genome sequencing in a large pediatric cohort;American Journal of Medical Genetics Part A;2022-12-23