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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Dettagli Bibliografici
Pubblicato in:Hum Mutat
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2018
Soggetti:
Special Issue Articles
Accesso online: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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