Detalhe da pesquisa
1.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet;
109(12): 2163-2177, 2022 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36413997
2.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics;
18(1): 44, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38685113
3.
Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries.
Clin Gastroenterol Hepatol;
21(10): 2578-2587.e11, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36610497
4.
Predicting decompression surgery by applying multimodal deep learning to patients' structured and unstructured health data.
BMC Med Inform Decis Mak;
23(1): 2, 2023 01 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36609379
5.
Evaluation of the secondary use of electronic health records to detect seasonal, holiday-related, and rare events related to traumatic injury and poisoning.
BMC Public Health;
20(1): 46, 2020 Jan 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31931781
6.
Assessment of methods for predicting the effects of PTEN and TPMT protein variants.
Hum Mutat;
40(9): 1495-1506, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31184403
7.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat;
40(9): 1546-1556, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31294896
8.
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.
Hum Mutat;
40(9): 1612-1622, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31241222
9.
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Hum Mutat;
40(9): 1519-1529, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31342580
10.
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Am J Hum Genet;
99(4): 877-885, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27666373
11.
Big Data in Public Health: Terminology, Machine Learning, and Privacy.
Annu Rev Public Health;
39: 95-112, 2018 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29261408
12.
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
Bioinformatics;
33(14): i389-i398, 2017 Jul 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28882004
13.
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.
Hum Mutat;
38(9): 1092-1108, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28508593
14.
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Hum Mutat;
38(9): 1182-1192, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28634997
15.
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.
PLoS Comput Biol;
12(8): e1005091, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27564311
16.
Intrinsic Size Parameters for Palmitoylated and Carboxyamidomethylated Peptides.
Int J Mass Spectrom;
368: 6-14, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26023288
17.
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
medRxiv;
2024 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38496501
18.
GeneclusterViz: a tool for conserved gene cluster visualization, exploration and analysis.
Bioinformatics;
28(11): 1527-9, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22495752
19.
Multi-objective prioritization of genes for high-throughput functional assays towards improved clinical variant classification.
Pac Symp Biocomput;
28: 323-334, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36540988
20.
Recommended practices and ethical considerations for natural language processing-assisted observational research: A scoping review.
Clin Transl Sci;
16(3): 398-411, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36478394