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

Tina Pesaran

Showing results (21-30 of 83) with videos related to

Pageof 9
Sort By:
NPJ Precision Oncology|November 3, 2024
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testingTuya Pal, Erin Mundt, Marcy E Richardson, et al.
Plos One|August 5, 2020
Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictionsAlexander D Karabachev, Dylan J Martini, David J Hermel, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
Journal of Medical Genetics|August 9, 2019
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicityShuwei Li, Dajun Qian, Bryony A Thompson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicityCristina Fortuno, Kelly McGoldrick, Tina Pesaran, et al.
Scientific Reports|September 6, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classificationYuan Tian, Tina Pesaran, Adam Chamberlin, et al.
Plos One|September 14, 2018
A Bayesian framework for efficient and accurate variant predictionDajun Qian, Shuwei Li, Yuan Tian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVarSteven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, et al.
American Journal of Human Genetics|November 18, 2021
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTENShawn Fayer, Carrie Horton, Jennifer N Dines, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2014
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patientsHolly LaDuca, A J Stuenkel, Jill S Dolinsky, et al.
Pageof 9

Showing results (21-30 of 83) with videos related to

Sort By:
Pageof 9
NPJ Precision Oncology|November 3, 2024
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testingTuya Pal, Erin Mundt, Marcy E Richardson, et al.
Plos One|August 5, 2020
Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictionsAlexander D Karabachev, Dylan J Martini, David J Hermel, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
Journal of Medical Genetics|August 9, 2019
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicityShuwei Li, Dajun Qian, Bryony A Thompson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicityCristina Fortuno, Kelly McGoldrick, Tina Pesaran, et al.
Scientific Reports|September 6, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classificationYuan Tian, Tina Pesaran, Adam Chamberlin, et al.
Plos One|September 14, 2018
A Bayesian framework for efficient and accurate variant predictionDajun Qian, Shuwei Li, Yuan Tian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVarSteven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, et al.
American Journal of Human Genetics|November 18, 2021
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTENShawn Fayer, Carrie Horton, Jennifer N Dines, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2014
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patientsHolly LaDuca, A J Stuenkel, Jill S Dolinsky, et al.
Pageof 9