Detalhe da pesquisa
1.
Exome sequencing and analysis of 454,787 UK Biobank participants.
Nature
; 599(7886): 628-634, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662886
2.
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
3.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
; 586(7831): 749-756, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087929
4.
Optimized sample selection for cost-efficient long-read population sequencing.
Genome Res
; 31(5): 910-918, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811084
5.
Sparse Project VCF: efficient encoding of population genotype matrices.
Bioinformatics
; 36(22-23): 5537-5538, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300997
6.
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1859-1875, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30108311
7.
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1901-1903, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636380
8.
VCPA: genomic variant calling pipeline and data management tool for Alzheimer's Disease Sequencing Project.
Bioinformatics
; 35(10): 1768-1770, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351394
9.
Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project.
Genomics
; 111(4): 808-818, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29857119
10.
SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads.
BMC Genomics
; 18(Suppl 6): 691, 2017 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28984202
11.
Assessing structural variation in a personal genome-towards a human reference diploid genome.
BMC Genomics
; 16: 286, 2015 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25886820
12.
VCPA: genomic variant calling pipeline and data management tool for Alzheimer's Disease Sequencing Project.
Bioinformatics
; 35(11): 1985, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004159
13.
PBHoney: identifying genomic variants via long-read discordance and interrupted mapping.
BMC Bioinformatics
; 15: 180, 2014 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24915764
14.
Structural variation across 138,134 samples in the TOPMed consortium.
Res Sq
; 2023 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778386
15.
Structural variation across 138,134 samples in the TOPMed consortium.
bioRxiv
; 2023 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747810
16.
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.
Nat Genet
; 54(4): 382-392, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35241825
17.
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Nat Genet
; 53(7): 942-948, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183854
18.
Parliament2: Accurate structural variant calling at scale.
Gigascience
; 9(12)2020 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33347570
19.
MONSTER: inferring non-covalent interactions in macromolecular structures from atomic coordinate data.
Nucleic Acids Res
; 32(Web Server issue): W566-8, 2004 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15215451
20.
Solution structure of a CUE-ubiquitin complex reveals a conserved mode of ubiquitin binding.
Cell
; 113(5): 621-30, 2003 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12787503