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Biorxiv : the Preprint Server for Biology
|
September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Timothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Timothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Plos Computational Biology
|
May 14, 2016
Applying, Evaluating and Refining Bioinformatics Core Competencies (An Update from the Curriculum Task Force of ISCB's Education Committee)
Lonnie Welch, Cath Brooksbank, Russell Schwartz, et al.
American Journal of Human Genetics
|
November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
Vikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Scientific Reports
|
May 7, 2024
Genetic polymorphisms associated with adverse pregnancy outcomes in nulliparas
Raiyan R Khan, Rafael F Guerrero, Ronald J Wapner, et al.
Human Mutation
|
January 7, 2010
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions
Matthew Mort, Uday S Evani, Vidhya G Krishnan, et al.
JAMA Network Open
|
August 30, 2022
Association of Genetic Predisposition and Physical Activity With Risk of Gestational Diabetes in Nulliparous Women
Kymberleigh A Pagel, Hoyin Chu, Rashika Ramola, et al.
Biorxiv : the Preprint Server for Biology
|
May 7, 2026
Advances in Protein Function Prediction from the Fifth CAFA Challenge
M Clara De Paolis Kaluza, Rashika Ramola, Parnal Joshi, et al.
Genetics
|
August 21, 2023
Searching and visualizing genetic associations of pregnancy traits by using GnuMoM2b
Qi Yan, Rafael F Guerrero, Raiyan R Khan, et al.
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of 18
Search research articles
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Showing results (131-140 of 175) with videos related to
Sort By:
Page
of 18
Biorxiv : the Preprint Server for Biology
|
September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Timothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Timothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Plos Computational Biology
|
May 14, 2016
Applying, Evaluating and Refining Bioinformatics Core Competencies (An Update from the Curriculum Task Force of ISCB's Education Committee)
Lonnie Welch, Cath Brooksbank, Russell Schwartz, et al.
American Journal of Human Genetics
|
November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
Vikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Scientific Reports
|
May 7, 2024
Genetic polymorphisms associated with adverse pregnancy outcomes in nulliparas
Raiyan R Khan, Rafael F Guerrero, Ronald J Wapner, et al.
Human Mutation
|
January 7, 2010
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions
Matthew Mort, Uday S Evani, Vidhya G Krishnan, et al.
JAMA Network Open
|
August 30, 2022
Association of Genetic Predisposition and Physical Activity With Risk of Gestational Diabetes in Nulliparous Women
Kymberleigh A Pagel, Hoyin Chu, Rashika Ramola, et al.
Biorxiv : the Preprint Server for Biology
|
May 7, 2026
Advances in Protein Function Prediction from the Fifth CAFA Challenge
M Clara De Paolis Kaluza, Rashika Ramola, Parnal Joshi, et al.
Genetics
|
August 21, 2023
Searching and visualizing genetic associations of pregnancy traits by using GnuMoM2b
Qi Yan, Rafael F Guerrero, Raiyan R Khan, et al.
Page
of 18