Associated Papers
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.
Petrazzini BO et al.
Nature Genetics, 2024
Genetic associations of protein-coding variants in human disease.
Sun BB et al.
Nature, 2022
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.
Akbari P et al.
Science (new York, N.y.), 2021
A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.
Tcheandjieu C et al.
Plos Genetics, 2020
33226994 (PubMed )
Supplement: pgen.1008802.s004.xlsx › Sheet1
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC8_ERR166330
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