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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).

Publication ,  Journal Article
Gonzales, PR; Andersen, EF; Brown, TR; Horner, VL; Horwitz, J; Rehder, CW; Rudy, NL; Robin, NH; Thorland, EC ...
Published in: Genet Med
February 2022

Genomic testing, including single-nucleotide variation (formerly single-nucleotide polymorphism)-based chromosomal microarray and exome and genome sequencing, can detect long regions of homozygosity (ROH) within the genome. Genomic testing can also detect possible uniparental disomy (UPD). Platforms that can detect ROH and possible UPD have matured since the initial American College of Medical Genetics and Genomics (ACMG) standard was published in 2013, and the detection of ROH and UPD by these platforms has shown utility in diagnosis of patients with genetic/genomic disorders. The presence of these segments, when distributed across multiple chromosomes, may indicate a familial relationship between the proband's parents. This technical standard describes the detection of possible consanguinity and UPD by genomic testing, as well as the factors confounding the inference of a specific parental relationship or UPD. Current bioethical and legal issues regarding detection and reporting of consanguinity are also discussed.

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Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

February 2022

Volume

24

Issue

2

Start / End Page

255 / 261

Location

United States

Related Subject Headings

  • United States
  • Uniparental Disomy
  • Polymorphism, Single Nucleotide
  • Humans
  • Homozygote
  • Genomics
  • Genetics, Medical
  • Genetics & Heredity
  • Consanguinity
  • 3105 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Gonzales, P. R., Andersen, E. F., Brown, T. R., Horner, V. L., Horwitz, J., Rehder, C. W., … On Behalf Of The Acmg Laboratory Quality Assurance Committee, . (2022). 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). Genet Med, 24(2), 255–261. https://doi.org/10.1016/j.gim.2021.10.004
Gonzales, Patrick R., Erica F. Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine W. Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland, and Erik C. On Behalf Of The Acmg Laboratory Quality Assurance Committee. “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).Genet Med 24, no. 2 (February 2022): 255–61. https://doi.org/10.1016/j.gim.2021.10.004.
Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC, On Behalf Of The Acmg Laboratory Quality Assurance Committee. 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). Genet Med. 2022 Feb;24(2):255–261.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

February 2022

Volume

24

Issue

2

Start / End Page

255 / 261

Location

United States

Related Subject Headings

  • United States
  • Uniparental Disomy
  • Polymorphism, Single Nucleotide
  • Humans
  • Homozygote
  • Genomics
  • Genetics, Medical
  • Genetics & Heredity
  • Consanguinity
  • 3105 Genetics