Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
; 169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340351
2.
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species.
Nucleic Acids Res
; 52(D1): D938-D949, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38000386
3.
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning.
Bioinformatics
; 40(3)2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383067
4.
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Am J Hum Genet
; 108(9): 1564-1577, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34289339
5.
KG-Hub-building and exchanging biological knowledge graphs.
Bioinformatics
; 39(7)2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37389415
6.
From Reductionism to Reintegration: Solving society's most pressing problems requires building bridges between data types across the life sciences.
PLoS Biol
; 19(3): e3001129, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33770077
7.
An evaluation of GPT models for phenotype concept recognition.
BMC Med Inform Decis Mak
; 24(1): 30, 2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38297371
8.
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
Am J Hum Genet
; 107(3): 403-417, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32755546
9.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33264411
10.
Risk factors associated with post-acute sequelae of SARS-CoV-2: an N3C and NIH RECOVER study.
BMC Public Health
; 23(1): 2103, 2023 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37880596
11.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet
; 190(2): 231-242, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35872606
12.
NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study.
Virol J
; 19(1): 84, 2022 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35570298
13.
Transforming the study of organisms: Phenomic data models and knowledge bases.
PLoS Comput Biol
; 16(11): e1008376, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232313
14.
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
J Med Internet Res
; 23(3): e21023, 2021 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33724192
15.
Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data.
PLoS Biol
; 15(6): e2001414, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28662064
16.
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Am J Hum Genet
; 108(11): 2205, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34739835
17.
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Am J Hum Genet
; 99(3): 595-606, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569544
18.
Response to Biesecker et al.
Am J Hum Genet
; 108(9): 1807-1808, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478655
19.
New models for human disease from the International Mouse Phenotyping Consortium.
Mamm Genome
; 30(5-6): 143-150, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127358
20.
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res
; 45(D1): D712-D722, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899636