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.
Retromer dysfunction in amyotrophic lateral sclerosis.
Proc Natl Acad Sci U S A
; 119(26): e2118755119, 2022 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35749364
3.
Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico.
BMC Bioinformatics
; 20(1): 46, 2019 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30669967
4.
Novel features and enhancements in BioBin, a tool for the biologically inspired binning and association analysis of rare variants.
Bioinformatics
; 34(3): 527-529, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28968757
5.
Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer's disease.
BMC Med Inform Decis Mak
; 17(Suppl 1): 61, 2017 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28539126
6.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
medRxiv
; 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496498
7.
Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Science
; 372(6537)2021 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33632895
8.
A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31917831
9.
Artificial Intelligence for Drug Toxicity and Safety.
Trends Pharmacol Sci
; 40(9): 624-635, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31383376
10.
PATTERNS IN BIOMEDICAL DATA-HOW DO WE FIND THEM?
Pac Symp Biocomput
; 22: 177-183, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896973
11.
PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies.
Nat Commun
; 8(1): 1167, 2017 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29079728
12.
KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN.
Pac Symp Biocomput
; 21: 249-60, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26776191
13.
Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases.
PLoS One
; 11(8): e0160573, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27508393