Detalhe da pesquisa
1.
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae.
Hum Mol Genet
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558123
2.
MUSE-XAE: MUtational Signature Extraction with eXplainable AutoEncoder enhances tumour types classification.
Bioinformatics
; 40(5)2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38754097
3.
Predicting protein stability changes upon single-point mutation: a thorough comparison of the available tools on a new dataset.
Brief Bioinform
; 23(2)2022 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35021190
4.
Recombulator-X: A fast and user-friendly tool for estimating X chromosome recombination rates in forensic genetics.
PLoS Comput Biol
; 19(9): e1011474, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37721960
5.
DDGun: an untrained predictor of protein stability changes upon amino acid variants.
Nucleic Acids Res
; 50(W1): W222-W227, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35524565
6.
Impact of PNPLA3 rs738409 Polymorphism on the Development of Liver-Related Events in Patients With Nonalcoholic Fatty Liver Disease.
Clin Gastroenterol Hepatol
; 21(13): 3314-3321.e3, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149016
7.
BamToCov: an efficient toolkit for sequence coverage calculations.
Bioinformatics
; 38(9): 2617-2618, 2022 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35199151
8.
Caucasian lean subjects with non-alcoholic fatty liver disease share long-term prognosis of non-lean: time for reappraisal of BMI-driven approach?
Gut
; 71(2): 382-390, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33541866
9.
Combined miRNA and SERS urine liquid biopsy for the point-of-care diagnosis and molecular stratification of bladder cancer.
Mol Med
; 28(1): 39, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35365098
10.
Functional and clinical implications of genetic structure in 1686 Italian exomes.
Hum Mutat
; 42(3): 272-289, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33326653
11.
Dadaist2: A Toolkit to Automate and Simplify Statistical Analysis and Plotting of Metabarcoding Experiments.
Int J Mol Sci
; 22(10)2021 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34069990
12.
Genetic and Epigenetic Characterization of a Discordant KMT2A/AFF1-Rearranged Infant Monozygotic Twin Pair.
Int J Mol Sci
; 22(18)2021 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34575904
13.
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization.
BMC Bioinformatics
; 18(1): 225, 2017 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28454514
14.
SYNDSURV: A simple framework for survival analysis with data distributed across multiple institutions.
Comput Biol Med
; 172: 108288, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503094
15.
Influence of Model Structures on Predictors of Protein Stability Changes from Single-Point Mutations.
Genes (Basel)
; 14(12)2023 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137050
16.
The 8q24 region hosts miRNAs altered in biospecimens of colorectal and bladder cancer patients.
Cancer Med
; 12(5): 5859-5873, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36366788
17.
Variability of transient elastography-based spleen stiffness performed at 100 Hz.
Eur Radiol Exp
; 7(1): 79, 2023 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087079
18.
Small non-coding RNA profiling in patients with gastrointestinal cancer.
J Cachexia Sarcopenia Muscle
; 14(6): 2692-2702, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37743227
19.
Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: A systematic review.
Artif Intell Med
; 142: 102588, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316101
20.
Challenges in predicting stabilizing variations: An exploration.
Front Mol Biosci
; 9: 1075570, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36685278