Detalhe da pesquisa
1.
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Am J Hum Genet
; 107(1): 72-82, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504544
2.
Evaluating the impact of in silico predictors on clinical variant classification.
Genet Med
; 24(4): 924-930, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34955381
3.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Am J Hum Genet
; 100(6): 895-906, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552198
4.
ClinGen Allele Registry links information about genetic variants.
Hum Mutat
; 39(11): 1690-1701, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311374
5.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Hum Mutat
; 39(11): 1569-1580, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311390
6.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Annu Rev Biomed Data Sci
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38663031
7.
Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Pac Symp Biocomput
; 28: 531-535, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541006
8.
An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics.
Pac Symp Biocomput
; 27: 385-396, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34890165
9.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Genome Med
; 14(1): 6, 2022 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35039090
10.
LitGen: Genetic Literature Recommendation Guided by Human Explanations.
Pac Symp Biocomput
; 25: 67-78, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31797587
11.
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Genome Med
; 12(1): 3, 2019 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31892348