Detalhe da pesquisa
1.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
2.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
3.
Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
Genet Med
; 20(12): 1677-1686, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29988077
4.
Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer.
Clin Cancer Res
; 29(21): 4419-4429, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756555
5.
Outcomes of Patients with Metastatic Castration-Resistant Prostate Cancer According to Somatic Damage DNA Repair Gene Alterations.
Curr Oncol
; 29(4): 2776-2791, 2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35448200
6.
OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice.
Oncotarget
; 7(48): 79485-79493, 2016 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27825131