Detalhe da pesquisa
1.
DGIdb 5.0: rebuilding the drug-gene interaction database for precision medicine and drug discovery platforms.
Nucleic Acids Res
; 52(D1): D1227-D1235, 2024 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37953380
2.
Artificial intelligence and pathology: From principles to practice and future applications in histomorphology and molecular profiling.
Semin Cancer Biol
; 84: 129-143, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33631297
3.
Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine.
Bioinformatics
; 38(23): 5279-5287, 2022 11 30.
Artigo
Inglês
| MEDLINE | ID: mdl-36222570
4.
Integration of the Drug-Gene Interaction Database (DGIdb 4.0) with open crowdsource efforts.
Nucleic Acids Res
; 49(D1): D1144-D1151, 2021 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33237278
5.
Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing.
Br J Cancer
; 127(8): 1540-1549, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35871236
6.
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
Inglês
| MEDLINE | ID: mdl-35101336
7.
Discovery of clinically relevant fusions in pediatric cancer.
BMC Genomics
; 22(1): 872, 2021 Dec 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34863095
8.
DGIdb 3.0: a redesign and expansion of the drug-gene interaction database.
Nucleic Acids Res
; 46(D1): D1068-D1073, 2018 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29156001
9.
Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples.
Genet Med
; 21(4): 972-981, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30287923
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
Inglês
| MEDLINE | ID: mdl-30311370
11.
DGIdb 2.0: mining clinically relevant drug-gene interactions.
Nucleic Acids Res
; 44(D1): D1036-44, 2016 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26531824
12.
GenVisR: Genomic Visualizations in R.
Bioinformatics
; 32(19): 3012-4, 2016 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27288499
13.
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
Inglês
| MEDLINE | ID: mdl-36063163
14.
Whole-gene sequencing investigation of SAT1 in attempted suicide.
Am J Med Genet B Neuropsychiatr Genet
; 171(6): 888-95, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27229768
15.
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Hum Mol Genet
; 22(25): 5136-45, 2013 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-23918662
16.
DoCM: a database of curated mutations in cancer.
Nat Methods
; 13(10): 806-7, 2016 09 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27684579
17.
Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq.
Exp Eye Res
; 129: 93-106, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25446321
18.
Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Genome Biol
; 25(1): 100, 2024 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38641812
19.
Prioritization of retinal disease genes: an integrative approach.
Hum Mutat
; 34(6): 853-9, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23508994
20.
Exon-level expression profiling of ocular tissues.
Exp Eye Res
; 111: 105-11, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23500522