articleNatureOct 14, 2020BRONZE OA

Evidence for 28 genetic disorders discovered by combining healthcare and research data

JKJoanna KaplanisKEKaitlin E. SamochaLWLaurens WielZZZhancheng ZhangKJKevin J. Arvai

Wellcome Sanger Institute · Radboud University Nijmegen · +50 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

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665
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64.31
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100%
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282

Topics & keywords

Topics
Keywords
  • Exome sequencing
  • Gene
  • Genetics
  • Biology
  • Exome
  • Phenotype
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