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.
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease.
Cell
; 184(10): 2633-2648.e19, 2021 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864768
3.
Genomic Analysis in the Age of Human Genome Sequencing.
Cell
; 177(1): 70-84, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901550
4.
The Human Pangenome Project: a global resource to map genomic diversity.
Nature
; 604(7906): 437-446, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35444317
5.
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
6.
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk.
Am J Hum Genet
; 109(10): 1727-1741, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055244
7.
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
8.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 572(7769): 323-328, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367044
9.
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
10.
Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes.
Genome Res
; 31(12): 2249-2257, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544830
11.
The impact of rare variation on gene expression across tissues.
Nature
; 550(7675): 239-243, 2017 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29022581
12.
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.
Hum Genomics
; 15(1): 34, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34099068
13.
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants.
Mol Psychiatry
; 26(9): 4884-4895, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33526825
14.
svtools: population-scale analysis of structural variation.
Bioinformatics
; 35(22): 4782-4787, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31218349
15.
SpeedSeq: ultra-fast personal genome analysis and interpretation.
Nat Methods
; 12(10): 966-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258291
16.
SVScore: an impact prediction tool for structural variation.
Bioinformatics
; 33(7): 1083-1085, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28031184
17.
Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.
Genome Res
; 23(5): 762-76, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23410887
18.
Population-based structural variation discovery with Hydra-Multi.
Bioinformatics
; 31(8): 1286-9, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527832
19.
Characterizing complex structural variation in germline and somatic genomes.
Trends Genet
; 28(1): 43-53, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22094265
20.
SAMBLASTER: fast duplicate marking and structural variant read extraction.
Bioinformatics
; 30(17): 2503-5, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24812344