Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Karthik A Jagadeesh

Showing results (1-10 of 22) with videos related to

Pageof 3
Sort By:
Nature Computational Science|January 13, 2024
Avoiding genetic racial profiling in criminal DNA profile databasesJacob A Blindenbach, Karthik A Jagadeesh, Gill Bejerano, et al.
Science (New York, N.Y.)|August 19, 2017
Deriving genomic diagnoses without revealing patient genomesKarthik A Jagadeesh, David J Wu, Johannes A Birgmeier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritizationKarthik A Jagadeesh, Johannes Birgmeier, Harendra Guturu, et al.
Frontiers in Oncology|October 3, 2022
Treatment-associated remodeling of the pancreatic cancer endothelium at single-cell resolutionCarina Shiau, Jennifer Su, Jimmy A Guo, et al.
Nature Genetics|February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicingKarthik A Jagadeesh, Joseph M Paggi, James S Ye, et al.
European Journal of Human Genetics : EJHG|August 9, 2018
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson DiseaseHeidi I Chen, Karthik A Jagadeesh, Johannes Birgmeier, et al.
Nature Genetics|November 8, 2016
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivityKarthik A Jagadeesh, Aaron M Wenger, Mark J Berger, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndromeJohannes Birgmeier, Edward D Esplin, Karthik A Jagadeesh, et al.
Nature Genetics|September 22, 2022
SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association testsWei Zhou, Wenjian Bi, Zhangchen Zhao, et al.
Nature|February 9, 2023
Polygenic architecture of rare coding variation across 394,783 exomesDaniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Nature Computational Science|January 13, 2024
Avoiding genetic racial profiling in criminal DNA profile databasesJacob A Blindenbach, Karthik A Jagadeesh, Gill Bejerano, et al.
Science (New York, N.Y.)|August 19, 2017
Deriving genomic diagnoses without revealing patient genomesKarthik A Jagadeesh, David J Wu, Johannes A Birgmeier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritizationKarthik A Jagadeesh, Johannes Birgmeier, Harendra Guturu, et al.
Frontiers in Oncology|October 3, 2022
Treatment-associated remodeling of the pancreatic cancer endothelium at single-cell resolutionCarina Shiau, Jennifer Su, Jimmy A Guo, et al.
Nature Genetics|February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicingKarthik A Jagadeesh, Joseph M Paggi, James S Ye, et al.
European Journal of Human Genetics : EJHG|August 9, 2018
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson DiseaseHeidi I Chen, Karthik A Jagadeesh, Johannes Birgmeier, et al.
Nature Genetics|November 8, 2016
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivityKarthik A Jagadeesh, Aaron M Wenger, Mark J Berger, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndromeJohannes Birgmeier, Edward D Esplin, Karthik A Jagadeesh, et al.
Nature Genetics|September 22, 2022
SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association testsWei Zhou, Wenjian Bi, Zhangchen Zhao, et al.
Nature|February 9, 2023
Polygenic architecture of rare coding variation across 394,783 exomesDaniel J Weiner, Ajay Nadig, Karthik A Jagadeesh, et al.
Pageof 3