Detalhe da pesquisa
1.
NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data.
Bioinformatics
; 40(3)2024 Mar 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38444093
2.
DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark.
BMC Bioinformatics
; 20(1): 493, 2019 Oct 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31604420
3.
Computational solutions to large-scale data management and analysis.
Nat Rev Genet
; 11(9): 647-57, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20717155
4.
Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project.
J Genet Couns
; 25(5): 1044-53, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-26898680
5.
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
Hum Mutat
; 36(6): 587-92, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25754315
6.
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
Hum Mol Genet
; 22(12): 2529-38, 2013 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23446634
7.
How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study.
Genet Med
; 17(11): 866-74, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25634025
8.
CytoSPADE: high-performance analysis and visualization of high-dimensional cytometry data.
Bioinformatics
; 28(18): 2400-1, 2012 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22782546
9.
Cloud and heterogeneous computing solutions exist today for the emerging big data problems in biology.
Nat Rev Genet
; 12(3): 224, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21301474
10.
NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data.
Gigascience
; 10(7)2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34195837
11.
Development and Validation of a Comprehensive Genomics Knowledge Scale.
Public Health Genomics
; 24(5-6): 291-303, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34058740
12.
MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration.
BMC Med Genomics
; 12(1): 172, 2019 11 27.
Artigo
Inglês
| MEDLINE | ID: mdl-31775760
13.
Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium.
Genome Med
; 11(1): 10, 2019 02 27.
Artigo
Inglês
| MEDLINE | ID: mdl-30808425
14.
Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years.
BMC Med Genomics
; 11(1): 5, 2018 01 30.
Artigo
Inglês
| MEDLINE | ID: mdl-29382336
15.
HermesB: a continuous neural recording system for freely behaving primates.
IEEE Trans Biomed Eng
; 54(11): 2037-50, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18018699
16.
Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.
Eur J Hum Genet
; 25(3): 280-292, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28051073
17.
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.
J Mol Diagn
; 19(4): 561-566, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28502727
18.
Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium.
J Pers Med
; 6(2)2016 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-27023617
19.
Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.
Eur J Hum Genet
; 24(1): 14-20, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26036856
20.
Preparing the next generation of genomicists: a laboratory-style course in medical genomics.
BMC Med Genomics
; 8: 47, 2015 Aug 12.
Artigo
Inglês
| MEDLINE | ID: mdl-26264128