ClinGen — The Clinical Genome Resource Article Swipe
Heidi L. Rehm
,
Jonathan S. Berg
,
Lisa Brooks
,
Carlos D. Bustamante
,
James P. Evans
,
Melissa Landrum
,
David H. Ledbetter
,
Donna Maglott
,
Christa Lese Martin
,
Robert L. Nussbaum
,
Sharon E. Plon
,
Erin M. Ramos
,
Stephen T. Sherry
,
Michael S. Watson
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.17615/js2g-yk58
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.17615/js2g-yk58
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are tested for the genetic variant to determine their risk. Several family members test negative and are told that they are not at risk for hypertrophic cardiomyopathy and sudden cardiac death, and those who test positive are told that they need to be regularly monitored for cardiomyopathy on echocardiography. Five years later, during a routine clinic visit of one of the genotype-positive family members, the cardiologist queries a database for current knowledge on the genetic variant and discovers that the variant is now interpreted as “likely benign” by another laboratory that uses more recently derived population-frequency data. A newly available testing panel for additional genes that are implicated in hypertrophic cardiomyopathy is initiated on an affected family member, and a different variant is found that is determined to be pathogenic. Family members are retested, and one member who previously tested negative is now found to be positive for this new variant. An immediate clinical workup detects evidence of cardiomyopathy, and an intracardiac defibrillator is implanted to reduce the risk of sudden cardiac death.
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https://openalex.org/W4301668176Canonical identifier for this work in OpenAlex
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https://doi.org/10.17615/js2g-yk58Digital Object Identifier
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ClinGen — The Clinical Genome ResourceWork title
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articleOpenAlex work type
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enPrimary language
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2020Year of publication
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2020-11-10Full publication date if available
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Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks, Carlos D. Bustamante, James P. Evans, Melissa Landrum, David H. Ledbetter, Donna Maglott, Christa Lese Martin, Robert L. Nussbaum, Sharon E. Plon, Erin M. Ramos, Stephen T. Sherry, Michael S. WatsonList of authors in order
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YesWhether a free full text is available
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greenOpen access status per OpenAlex
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https://doi.org/10.17615/js2g-yk58Direct OA link when available
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Resource (disambiguation), Genome, Computational biology, Evolutionary biology, Computer science, Biology, Genetics, Gene, Computer networkTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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| cited_by_percentile_year | |
| countries_distinct_count | 0 |
| institutions_distinct_count | 14 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/2 |
| sustainable_development_goals[0].score | 0.4399999976158142 |
| sustainable_development_goals[0].display_name | Zero hunger |
| citation_normalized_percentile.value | 0.26554326 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |