Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)-Reference-Cited by-同舟云学术

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Published:2022-02 Issue:2 Volume:24 Page:255-261
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Gonzales Patrick R.,Andersen Erica F.,Brown Teneille R.,Horner Vanessa L.,Horwitz Juli,Rehder Catherine W.,Rudy Natasha L.,Robin Nathaniel H.,Thorland Erik C.,on behalf of the ACMG Laboratory Quality Assurance Committee

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference45 articles.

1. American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing;Rehder;Genet Med,2013

2. Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing;Grote;Genet Med,2012

3. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013;South;Genet Med,2013

4. Clinical laboratory implementation of cytogenomic microarrays;South;Cytogenet Genome Res,2011

5. Increasing the diagnostic yield of exome sequencing by copy number variant analysis;Marchuk;PLoS One,2018

Cited by 32 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. Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls;Best Practice & Research Clinical Obstetrics & Gynaecology;2024-12

2. Exploring the human genomic landscape: patterns of common homozygosity regions in a large middle eastern cohort;Human Molecular Genetics;2024-09-02

3. Regions of Homozygocity size patterns among diverse ethnic groups in Israel: Toward tailored diagnostic reporting thresholds;American Journal of Medical Genetics Part A;2024-08-15

4. Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?;Clinical Chemistry and Laboratory Medicine (CCLM);2024-07-19

5. Automatized detection of uniparental disomies in a large cohort;Human Genetics;2024-07-16