Παρακολούθηση
Stacey Gabriel
Stacey Gabriel
The Broad Institute of Harvard and MIT
Η διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα broadinstitute.org
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Heart disease and stroke statistics—2017 update: a report from the American Heart Association
EJ Benjamin, MJ Blaha, SE Chiuve, M Cushman, SR Das, R Deo, ...
circulation 135 (10), e146-e603, 2017
47534*2017
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
A McKenna, M Hanna, E Banks, A Sivachenko, K Cibulskis, A Kernytsky, ...
Genome research 20 (9), 1297-1303, 2010
243852010
EGFR Mutations in Lung Cancer: Correlation with Clinical Response to Gefitinib Therapy
JG Paez, PA Janne, JC Lee, S Tracy, H Greulich, S Gabriel, P Herman, ...
Science 304 (5676), 1497-1500, 2004
119432004
A framework for variation discovery and genotyping using next-generation DNA sequencing data
MA DePristo, E Banks, R Poplin, KV Garimella, JR Maguire, C Hartl, ...
Nature genetics 43 (5), 491-498, 2011
115572011
Comprehensive molecular portraits of human breast tumours
Brigham & Women’s Hospital & Harvard Medical School Chin Lynda 9 11 Park ...
Nature 490 (7418), 61-70, 2012
110372012
Analysis of protein-coding genetic variation in 60,706 humans
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...
Nature 536 (7616), 285-291, 2016
101702016
A second generation human haplotype map of over 3.1 million SNPs
International HapMap Consortium
Nature 449 (7164), 851, 2007
9339*2007
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87452010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82392012
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1
RGW Verhaak, KA Hoadley, E Purdom, V Wang, Y Qi, MD Wilkerson, ...
Cancer cell 17 (1), 98-110, 2010
78222010
The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity
J Barretina, G Caponigro, N Stransky, K Venkatesan, AA Margolin, S Kim, ...
Nature 483 (7391), 603-607, 2012
77212012
Comprehensive molecular characterization of human colon and rectal cancer
Cancer Genome Atlas Network
Nature 487 (7407), 330, 2012
73902012
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
Cancer Genome Atlas Research Network Tissue source sites: Duke University ...
Nature 455 (7216), 1061-1068, 2008
73212008
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
70092020
The structure of haplotype blocks in the human genome
SB Gabriel, SF Schaffner, H Nguyen, JM Moore, J Roy, B Blumenstiel, ...
science 296 (5576), 2225-2229, 2002
67152002
The international HapMap project
RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu, HM Yang, ...
Nature Publishing Group, 2003
61942003
Mutational heterogeneity in cancer and the search for new cancer-associated genes
MS Lawrence, P Stojanov, P Polak, GV Kryukov, K Cibulskis, ...
Nature 499 (7457), 214-218, 2013
57552013
From FastQ data to high‐confidence variant calls: the genome analysis toolkit best practices pipeline
GA Van der Auwera, MO Carneiro, C Hartl, R Poplin, G Del Angel, ...
Current protocols in bioinformatics 43 (1), 11.10. 1-11.10. 33, 2013
53782013
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
International Schizophrenia Consortium Manuscript preparation Purcell Shaun ...
Nature 460 (7256), 748-752, 2009
51912009
Comprehensive molecular characterization of gastric adenocarcinoma
Cancer Genome Atlas Research Network
Nature 513 (7517), 202, 2014
50952014
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