A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
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Published:2022-08
Issue:8
Volume:24
Page:1697-1707
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Seaby Eleanor G.ORCID,
Smedley Damian,
Taylor Tavares Ana Lisa,
Brittain Helen,
van Jaarsveld Richard H.,
Baralle Diana,
Rehm Heidi L.,
O’Donnell-Luria Anne,
Ennis Sarah
Subject
Genetics (clinical)
Reference37 articles.
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2. Strategies to uplift novel Mendelian gene discovery for improved clinical outcomes;Seaby;Front Genet,2021
3. Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies;Seaby;Brief Funct Genomics,2020
4. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels;Martin;Nat Genet,2019
5. 100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, et al. 100,000 Genomes pilot on rare-disease diagnosis in health care—preliminary report;N Engl J Med,2021
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18 articles.
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