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

Shruti Marwaha

Showing results (11-20 of 28) with videos related to

Pageof 3
Sort By:
Biorxiv : the Preprint Server for Biology|June 12, 2025
Biomni: A General-Purpose Biomedical AI AgentKexin Huang, Serena Zhang, Hanchen Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|February 8, 2026
Genetic Diagnosis and Discovery Enabled by Large Language ModelsTao Tu, Khaled Saab, Weida Liu, et al.
American Journal of Human Genetics|August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Science (New York, N.Y.)|July 9, 2026
Autonomous biomedical research with an artificial intelligence agentKexin Huang, Serena Zhang, Hanchen Wang, et al.
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics|September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesTaylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesMaggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Biorxiv : the Preprint Server for Biology|June 12, 2025
Biomni: A General-Purpose Biomedical AI AgentKexin Huang, Serena Zhang, Hanchen Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|February 8, 2026
Genetic Diagnosis and Discovery Enabled by Large Language ModelsTao Tu, Khaled Saab, Weida Liu, et al.
American Journal of Human Genetics|August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Science (New York, N.Y.)|July 9, 2026
Autonomous biomedical research with an artificial intelligence agentKexin Huang, Serena Zhang, Hanchen Wang, et al.
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics|September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesTaylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Journal of Neurogenetics|May 10, 2021
Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesMaggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Pageof 3