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Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
Author(s) -
Best Sunayna,
Inglehearn Chris F.,
Watson Christopher M.,
Toomes Carmel,
Wheway Gabrielle,
Johnson Colin A.
Publication year - 2022
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31965
Subject(s) - ciliopathies , cohort , biology , medicine , computational biology , genetics , gene , phenotype