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...

Full description

Saved in:
Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2018
Subjects:
Special Issue Articles
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items