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Human Genetics
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November 9, 2022
Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans
Yiming Wu, Cigdem Sevim Bayrak, Bosi Dong, et al.
Genome Medicine
|
December 1, 2023
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
David Stein, Meltem Ece Kars, Yiming Wu, et al.
Pharmacogenetics and Genomics
|
May 4, 2016
Contrasting exome constancy and regulatory region variation in the gene encoding CYP3A4: an examination of the extent and potential implications
Olivia J Creemer, Naser Ansari-Pour, Rosemary Ekong, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 2, 2015
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
Aziz Belkadi, Alexandre Bolze, Yuval Itan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 20, 2013
The human gene connectome as a map of short cuts for morbid allele discovery
Yuval Itan, Shen-Ying Zhang, Guillaume Vogt, et al.
Circulation. Genomic and Precision Medicine
|
July 6, 2021
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis
Amy R Kontorovich, Yingying Tang, Nihir Patel, et al.
BMC Genomics
|
April 4, 2014
HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
Yuval Itan, Mark Mazel, Benjamin Mazel, et al.
NPJ Drug Discovery
|
October 6, 2025
Genetic evidence informs the direction of therapeutic modulation in drug development
Robert Chen, Áine Duffy, Joshua K Park, et al.
Nature Communications
|
November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific models
David Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Nature Communications
|
September 30, 2025
Development of a genetic priority score to predict drug side effects using human genetic evidence
Áine Duffy, Robert Chen, David Stein, et al.
Page
of 12
Search research articles
Search
Showing results (31-40 of 116) with videos related to
Sort By:
Page
of 12
Human Genetics
|
November 9, 2022
Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans
Yiming Wu, Cigdem Sevim Bayrak, Bosi Dong, et al.
Genome Medicine
|
December 1, 2023
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
David Stein, Meltem Ece Kars, Yiming Wu, et al.
Pharmacogenetics and Genomics
|
May 4, 2016
Contrasting exome constancy and regulatory region variation in the gene encoding CYP3A4: an examination of the extent and potential implications
Olivia J Creemer, Naser Ansari-Pour, Rosemary Ekong, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 2, 2015
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
Aziz Belkadi, Alexandre Bolze, Yuval Itan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 20, 2013
The human gene connectome as a map of short cuts for morbid allele discovery
Yuval Itan, Shen-Ying Zhang, Guillaume Vogt, et al.
Circulation. Genomic and Precision Medicine
|
July 6, 2021
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis
Amy R Kontorovich, Yingying Tang, Nihir Patel, et al.
BMC Genomics
|
April 4, 2014
HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
Yuval Itan, Mark Mazel, Benjamin Mazel, et al.
NPJ Drug Discovery
|
October 6, 2025
Genetic evidence informs the direction of therapeutic modulation in drug development
Robert Chen, Áine Duffy, Joshua K Park, et al.
Nature Communications
|
November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific models
David Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Nature Communications
|
September 30, 2025
Development of a genetic priority score to predict drug side effects using human genetic evidence
Áine Duffy, Robert Chen, David Stein, et al.
Page
of 12