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Medrxiv : the Preprint Server for Health Sciences
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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.
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.
Nucleic Acids Research
|
December 19, 2003
The Gene Ontology (GO) database and informatics resource
M A Harris, J Clark, A Ireland, et al.
Genome Biology
|
March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Catherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Cell Genomics
|
January 24, 2022
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Heidi L Rehm, Angela J H Page, Lindsay Smith, et al.
Science (New York, N.Y.)
|
February 22, 2001
The sequence of the human genome
J C Venter, M D Adams, E W Myers, et al.
Page
of 9
Search research articles
Search
Showing results (81-90 of 86) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 86 results.
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.
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.
Nucleic Acids Research
|
December 19, 2003
The Gene Ontology (GO) database and informatics resource
M A Harris, J Clark, A Ireland, et al.
Genome Biology
|
March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Catherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Cell Genomics
|
January 24, 2022
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Heidi L Rehm, Angela J H Page, Lindsay Smith, et al.
Science (New York, N.Y.)
|
February 22, 2001
The sequence of the human genome
J C Venter, M D Adams, E W Myers, et al.
Page
of 9