Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes-Reference-Cited by-同舟云学术

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Published:2021-05 Issue:5 Volume:23 Page:968-971
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Hully Marie,Lo Barco Tommaso,Kaminska Anna,Barcia Giulia,Cances Claude,Mignot Cyril,Desguerre Isabelle,Garcelon Nicolas,Kabashi Edor,Nabbout Rima^ORCID

Funder

European Research Council

Fondation Bettencourt Schueller

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-01039-z.pdf

Reference17 articles.

1. Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse;Garcelon;J. Am. Med. Informatics Assoc.,2017

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