Detalhe da pesquisa
1.
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.
Am J Hum Genet
; 109(2): 195-209, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032432
2.
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
3.
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
Am J Hum Genet
; 108(4): 535-548, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798442
4.
SCOPe: improvements to the structural classification of proteins - extended database to facilitate variant interpretation and machine learning.
Nucleic Acids Res
; 50(D1): D553-D559, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850923
5.
A rust-fungus Nudix hydrolase effector decaps mRNA in vitro and interferes with plant immune pathways.
New Phytol
; 239(1): 222-239, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631975
6.
Newborn screening for neurodevelopmental diseases: Are we there yet?
Am J Med Genet C Semin Med Genet
; 190(2): 222-230, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35838066
7.
SCOPe: classification of large macromolecular structures in the structural classification of proteins-extended database.
Nucleic Acids Res
; 47(D1): D475-D481, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30500919
8.
Comparative analysis of regulatory information and circuits across distant species.
Nature
; 512(7515): 453-6, 2014 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25164757
9.
Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation.
Hum Mutat
; 40(9): 1197-1201, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31334884
10.
VIPdb, a genetic Variant Impact Predictor Database.
Hum Mutat
; 40(9): 1202-1214, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31283070
11.
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Hum Mutat
; 40(9): 1330-1345, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144778
12.
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.
Hum Mutat
; 40(9): 1474-1485, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260570
13.
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Hum Mutat
; 40(9): 1314-1320, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31140652
14.
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge.
Hum Mutat
; 40(9): 1392-1399, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209948
15.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Hum Mutat
; 40(9): 1373-1391, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31322791
16.
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Hum Mutat
; 40(9): 1530-1545, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301157
17.
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
18.
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
19.
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
N Engl J Med
; 375(22): 2165-2176, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27959755
20.
Putting benchmarks in their rightful place: The heart of computational biology.
PLoS Comput Biol
; 14(11): e1006494, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30408027