Detalhe da pesquisa
1.
A deep catalogue of protein-coding variation in 983,578 individuals.
Nature
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38768635
2.
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 622(7984): 784-793, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37821707
3.
Exome sequencing and analysis of 454,787 UK Biobank participants.
Nature
; 599(7886): 628-634, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662886
4.
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
5.
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
6.
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 626(8001): E18, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38332034
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences.
Genome Res
; 26(12): 1651-1662, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27934697
14.
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Genet Med
; 21(9): 2135-2144, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890783
15.
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.
Dement Geriatr Cogn Disord
; 45(1-2): 1-17, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29486463
16.
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
17.
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
18.
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
19.
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
20.
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline.
BMC Bioinformatics
; 15: 30, 2014 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24475911