Detalhe da pesquisa
1.
Pathogenic Germline Variants in 10,389 Adult Cancers.
Cell
; 173(2): 355-370.e14, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625052
2.
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Nucleic Acids Res
; 51(D1): D1230-D1241, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373660
3.
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
4.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(5): 986-998, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101336
5.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 22(2): 245-257, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690835
6.
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Genet Med
; 21(7): 1507-1516, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523343
7.
Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
Genet Med
; 21(7): 1497-1506, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504931
8.
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Hum Mutat
; 39(11): 1542-1552, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311369
9.
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
Hum Mutat
; 39(11): 1713-1720, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311373
10.
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.
Hum Mutat
; 39(11): 1721-1732, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311370
11.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261438
12.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(9): 1991, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063163
13.
Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.
Pharmacogenet Genomics
; 26(6): 271-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26906009
14.
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 23(11): 2230, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33731880
15.
Assessing structural variation in a personal genome-towards a human reference diploid genome.
BMC Genomics
; 16: 286, 2015 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25886820
16.
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.
Genet Med
; 17(10): 831-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25569436
17.
Response to Maya et al.
Genet Med
; 22(7): 1278-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341575
18.
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.
Database (Oxford)
; 20232023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617168
19.
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions.
Cancer Genet
; 264-265: 50-59, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35366592
20.
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