Detalhe da pesquisa
1.
Publisher Correction: Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI.
Sci Rep;
14(1): 10749, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38730000
2.
Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI.
Sci Rep;
14(1): 8842, 2024 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632317
3.
Predicting the impact of rare variants on RNA splicing in CAGI6.
Hum Genet;
2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170232
4.
On the limitations of large language models in clinical diagnosis.
medRxiv;
2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503093
5.
Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.
Bioinformatics;
39(12)2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38001031
6.
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Cold Spring Harb Mol Case Stud;
9(4)2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37684057
7.
Alternative splicing is coupled to gene expression in a subset of variably expressed genes.
bioRxiv;
2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37398049
8.
Phenopacket-tools: Building and validating GA4GH Phenopackets.
PLoS One;
18(5): e0285433, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196000
9.
GA4GH Phenopackets: A Practical Introduction.
Adv Genet (Hoboken);
4(1): 2200016, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36910590
10.
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Nat Biotechnol;
40(6): 817-820, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35705716
11.
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.
Hum Mutat;
43(8): 1071-1081, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35391505
12.
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.
Genome Med;
14(1): 44, 2022 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35484572
13.
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
14.
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
15.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res;
49(D1): D1207-D1217, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33264411
16.
Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.
Int J Pediatr Otorhinolaryngol;
140: 110499, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33234331
17.
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
18.
HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis.
Genome Biol;
21(1): 171, 2020 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32660516
19.
parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants.
Gigascience;
9(5)2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32444882
20.
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Genes (Basel);
11(4)2020 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32340307