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1.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
; 102(5): 874-889, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29727688
2.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
; 378(12): 1096-1106, 2018 03 22.
Article
in English
| MEDLINE | ID: mdl-29562163
3.
CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data.
Bioinformatics
; 32(1): 133-5, 2016 Jan 01.
Article
in English
| MEDLINE | ID: mdl-26382196
4.
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
Nat Commun
; 9(1): 2252, 2018 06 13.
Article
in English
| MEDLINE | ID: mdl-29899519
5.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Science
; 354(6319)2016 Dec 23.
Article
in English
| MEDLINE | ID: mdl-28008009
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