Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

Abstract In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely path...
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Autor*in:	Steven M. Harrison [verfasserIn] Heidi L. Rehm [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Übergeordnetes Werk:	In: Genome Medicine - BMC, 2016, 11(2019), 1, Seite 4
Übergeordnetes Werk:	volume:11 ; year:2019 ; number:1 ; pages:4

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/s13073-019-0688-9

Katalog-ID:	DOAJ016967968

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callnumber-first	Q - Science
author	Steven M. Harrison
spellingShingle	Steven M. Harrison misc QH426-470 misc Medicine misc R misc Genetics Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
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topic_title	QH426-470 Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
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title	Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
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title_full	Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
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title_sort	is ‘likely pathogenic’ really 90% likely? reclassification data in clinvar
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title_auth	Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
abstract	Abstract In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic classifications were reclassified as pathogenic, depending on whether LP to VUS reclassifications are included and on how these classifications are categorized.
abstractGer	Abstract In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic classifications were reclassified as pathogenic, depending on whether LP to VUS reclassifications are included and on how these classifications are categorized.
abstract_unstemmed	Abstract In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic classifications were reclassified as pathogenic, depending on whether LP to VUS reclassifications are included and on how these classifications are categorized.
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title_short	Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
url	https://doi.org/10.1186/s13073-019-0688-9 https://doaj.org/article/bcb86ff273ac491a8603747bb361ecea http://link.springer.com/article/10.1186/s13073-019-0688-9 https://doaj.org/toc/1756-994X
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