Detalhe da pesquisa
1.
Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer.
PLoS Genet
; 18(8): e1010342, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35926060
2.
Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.
Genome Res
; 2020 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32209592
3.
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.
J Med Genet
; 59(11): 1133-1138, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710107
4.
Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression.
Hum Genet
; 140(8): 1201-1216, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33978893
5.
Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure.
Hum Mutat
; 39(10): 1384-1392, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969170
6.
Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer.
Genome Med
; 13(1): 65, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910608
7.
Aberrant (pro)renin receptor expression induces genomic instability in pancreatic ductal adenocarcinoma through upregulation of SMARCA5/SNF2H.
Commun Biol
; 3(1): 724, 2020 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247206
8.
Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population.
Genome Med
; 11(1): 44, 2019 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31340865
9.
eVIDENCE: a practical variant filtering for low-frequency variants detection in cell-free DNA.
Sci Rep
; 9(1): 15017, 2019 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31641155
10.
Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability.
Int J Environ Res Public Health
; 15(12)2018 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30477169
11.
Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis.
Hum Genome Var
; 3: 15067, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27081565