Detalhe da pesquisa
1.
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Cell
; 185(18): 3426-3440.e19, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055201
2.
A draft human pangenome reference.
Nature
; 617(7960): 312-324, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165242
3.
Mapping and characterization of structural variation in 17,795 human genomes.
Nature
; 583(7814): 83-89, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32460305
4.
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 575(7783): E4, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686056
5.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 572(7769): 323-328, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367044
6.
Association of structural variation with cardiometabolic traits in Finns.
Am J Hum Genet
; 108(4): 583-596, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798444
7.
svtools: population-scale analysis of structural variation.
Bioinformatics
; 35(22): 4782-4787, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31218349
8.
SVScore: an impact prediction tool for structural variation.
Bioinformatics
; 33(7): 1083-1085, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28031184
9.
Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing.
Exp Mol Pathol
; 102(1): 156-161, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28093192
10.
Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study.
BMC Geriatr
; 16: 80, 2016 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060904
11.
Admixture mapping identifies a quantitative trait locus associated with FEV1/FVC in the COPDGene Study.
Genet Epidemiol
; 38(7): 652-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25112515
12.
A wide spectrum of EGFR mutations in glioblastoma is detected by a single clinical oncology targeted next-generation sequencing panel.
Exp Mol Pathol
; 98(3): 568-73, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25910966
13.
T-cell clonality assessment by next-generation sequencing improves detection sensitivity in mycosis fungoides.
J Am Acad Dermatol
; 73(2): 228-36.e2, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26048061
14.
Retinoblastoma gene mutations detected by whole exome sequencing of Merkel cell carcinoma.
Mod Pathol
; 27(8): 1073-87, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24406863
15.
Copy number variants in clinical next-generation sequencing data can define the relationship between simultaneous tumors in an individual patient.
Exp Mol Pathol
; 97(1): 69-73, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886963
16.
Rapid and accurate remethylation of DNA in Dnmt3a-deficient hematopoietic cells with restoration of DNMT3A activity.
Sci Adv
; 10(5): eadk8598, 2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38295174
17.
Persistent Molecular Disease in Adult Patients With AML Evaluated With Whole-Exome and Targeted Error-Corrected DNA Sequencing.
JCO Precis Oncol
; 7: e2200559, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37079859
18.
Genomic landscape of TP53 -mutated myeloid malignancies.
medRxiv
; 2023 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711871
19.
Genomic landscape of TP53-mutated myeloid malignancies.
Blood Adv
; 7(16): 4586-4598, 2023 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339484
20.
Effect of linkage disequilibrium on the identification of functional variants.
Genet Epidemiol
; 35 Suppl 1: S115-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22128051