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Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

The American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) recently published important new guidelines aiming to improve and standardize the pathogenicity classification of genomic variants. The Clinical Sequencing Exploratory Research (CSER) consortium... Full description

Journal Title: American journal of human genetics 2016-06-02, Vol.98 (6), p.1077-1081
Main Author: Jarvik, Gail P
Other Authors: Browning, Brian L
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: United States: Elsevier Inc
ID: ISSN: 0002-9297
Link: https://www.ncbi.nlm.nih.gov/pubmed/27236918
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title: Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants
format: Article
creator:
  • Jarvik, Gail P
  • Browning, Brian L
subjects:
  • Article
  • Biomedical Research
  • Classification
  • Evidence-Based Practice
  • Female
  • Genetic research
  • Genetic Testing - standards
  • Genetic variation
  • Genetic Variation - genetics
  • Genetics
  • Genetics(clinical)
  • Genome, Human
  • Genomics
  • Genomics - methods
  • Guidelines as Topic
  • High-Throughput Nucleotide Sequencing - methods
  • Humans
  • Incidental Findings
  • Laboratories - standards
  • Male
  • Methods
  • Mutation - genetics
  • Pathology
  • Pedigree
  • Sequence Analysis, DNA - standards
  • Software
  • United States
ispartof: American journal of human genetics, 2016-06-02, Vol.98 (6), p.1077-1081
description: The American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) recently published important new guidelines aiming to improve and standardize the pathogenicity classification of genomic variants. The Clinical Sequencing Exploratory Research (CSER) consortium evaluated the use of these guidelines across nine laboratories. One identified obstacle to consistent usage of the ACMG-AMP guidelines is the lack of a definition of cosegregation as criteria for pathogenicity classification. Cosegregation data differ from many other types of pathogenicity data in being quantitative. However, the ACMG-AMP guidelines do not define quantitative criteria for use of these data. Here, such quantitative criteria, in an easily implementable form, are proposed.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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descriptionThe American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) recently published important new guidelines aiming to improve and standardize the pathogenicity classification of genomic variants. The Clinical Sequencing Exploratory Research (CSER) consortium evaluated the use of these guidelines across nine laboratories. One identified obstacle to consistent usage of the ACMG-AMP guidelines is the lack of a definition of cosegregation as criteria for pathogenicity classification. Cosegregation data differ from many other types of pathogenicity data in being quantitative. However, the ACMG-AMP guidelines do not define quantitative criteria for use of these data. Here, such quantitative criteria, in an easily implementable form, are proposed.
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subjectArticle ; Biomedical Research ; Classification ; Evidence-Based Practice ; Female ; Genetic research ; Genetic Testing - standards ; Genetic variation ; Genetic Variation - genetics ; Genetics ; Genetics(clinical) ; Genome, Human ; Genomics ; Genomics - methods ; Guidelines as Topic ; High-Throughput Nucleotide Sequencing - methods ; Humans ; Incidental Findings ; Laboratories - standards ; Male ; Methods ; Mutation - genetics ; Pathology ; Pedigree ; Sequence Analysis, DNA - standards ; Software ; United States
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abstractThe American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) recently published important new guidelines aiming to improve and standardize the pathogenicity classification of genomic variants. The Clinical Sequencing Exploratory Research (CSER) consortium evaluated the use of these guidelines across nine laboratories. One identified obstacle to consistent usage of the ACMG-AMP guidelines is the lack of a definition of cosegregation as criteria for pathogenicity classification. Cosegregation data differ from many other types of pathogenicity data in being quantitative. However, the ACMG-AMP guidelines do not define quantitative criteria for use of these data. Here, such quantitative criteria, in an easily implementable form, are proposed.
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