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Arxiv
|
May 3, 2024
Guidelines for releasing a variant effect predictor
Benjamin J Livesey, Mihaly Badonyi, Mafalda Dias, et al.
Genome Biology
|
April 15, 2025
Guidelines for releasing a variant effect predictor
Benjamin J Livesey, Mihaly Badonyi, Mafalda Dias, et al.
Biorxiv : the Preprint Server for Biology
|
July 9, 2024
Mapping MAVE data for use in human genomics applications
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
Genome Biology
|
June 25, 2025
Mapping MAVE data for use in human genomics applications
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
The New England Journal of Medicine
|
April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Nucleic Acids Research
|
November 28, 2024
EMBL's European Bioinformatics Institute (EMBL-EBI) in 2024
Matthew Thakur, Catherine Brooksbank, Robert D Finn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
European Journal of Human Genetics : EJHG
|
August 3, 2018
Registered access: authorizing data access
Stephanie O M Dyke, Mikael Linden, Ilkka Lappalainen, et al.
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of 3
Search research articles
Search
Showing results (21-30 of 29) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 29 results.
Arxiv
|
May 3, 2024
Guidelines for releasing a variant effect predictor
Benjamin J Livesey, Mihaly Badonyi, Mafalda Dias, et al.
Genome Biology
|
April 15, 2025
Guidelines for releasing a variant effect predictor
Benjamin J Livesey, Mihaly Badonyi, Mafalda Dias, et al.
Biorxiv : the Preprint Server for Biology
|
July 9, 2024
Mapping MAVE data for use in human genomics applications
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
Genome Biology
|
June 25, 2025
Mapping MAVE data for use in human genomics applications
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
The New England Journal of Medicine
|
April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Nucleic Acids Research
|
November 28, 2024
EMBL's European Bioinformatics Institute (EMBL-EBI) in 2024
Matthew Thakur, Catherine Brooksbank, Robert D Finn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
European Journal of Human Genetics : EJHG
|
August 3, 2018
Registered access: authorizing data access
Stephanie O M Dyke, Mikael Linden, Ilkka Lappalainen, et al.
Page
of 3