ClinGen Allele Registry links information about genetic variants

Effective exchange of information about genetic variants is currently hampered by the lack of readily available globally unique variant identifiers that would enable aggregation of information from different sources. The ClinGen Allele Registry addresses this problem by providing (1) globally unique...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Pawliczek, Piotr, Patel, Ronak Y., Ashmore, Lillian R., Jackson, Andrew R., Bizon, Chris, Nelson, Tristan, Powell, Bradford, Freimuth, Robert R., Strande, Natasha, Shah, Neethu, Paithankar, Sameer, Wright, Matt W., Dwight, Selina, Zhen, Jimmy, Landrum, Melissa, McGarvey, Peter, Babb, Larry, Plon, Sharon E., Milosavljevic, Aleksandar
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Special Issue Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6519371/
https://ncbi.nlm.nih.gov/pubmed/30311374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23637
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