User profiles for S. B. Gabriel

Stacey Gabriel

The Broad Institute of Harvard and MIT
Verified email at broadinstitute.org
Cited by 455256

[PDF][PDF] Genomic classification of cutaneous melanoma

…, KT Flaherty, S Frazer, J Frick, V Fulidou, SB Gabriel… - Cell, 2015 - cell.com
We describe the landscape of genomic alterations in cutaneous melanomas through DNA,
RNA, and protein-based analysis of 333 primary and/or metastatic melanomas from 331 …

[PDF][PDF] Integrated genomic characterization of papillary thyroid carcinoma

…, RL Ferris, S Fisher, S Frazer, J Frick, SB Gabriel… - Cell, 2014 - cell.com
Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here, we
describe the genomic landscape of 496 PTCs. We observed a low frequency of somatic …

[HTML][HTML] A landscape of driver mutations in melanoma

…, DSB Hoon, D Schadendorf, ES Lander, SB Gabriel… - Cell, 2012 - cell.com
Despite recent insights into melanoma genetics, systematic surveys for driver mutations are
challenged by an abundance of passenger mutations caused by carcinogenic UV light …

The structure of haplotype blocks in the human genome

SB Gabriel, SF Schaffner, H Nguyen, JM Moore, J Roy… - science, 2002 - science.org
Haplotype-based methods offer a powerful approach to disease gene mapping, based on
the association between causal mutations and the ancestral haplotypes on which they arose. …

[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans

…, S Donnelly, R Elosua, JC Florez, SB Gabriel… - Nature, 2016 - nature.com
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

A framework for variation discovery and genotyping using next-generation DNA sequencing data

…, AY Sivachenko, K Cibulskis, SB Gabriel… - Nature …, 2011 - nature.com
Recent advances in sequencing technology make it possible to comprehensively catalog
genetic variation in population samples, creating a foundation for understanding human …

The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity

…, W Winckler, M Reich, N Li, JP Mesirov, SB Gabriel… - Nature, 2012 - nature.com
The systematic translation of cancer genomic data into knowledge of tumour biology and
therapeutic possibilities remains challenging. Such efforts should be greatly aided by robust …

Mutational heterogeneity in cancer and the search for new cancer-associated genes

…, R Onofrio, M Parkin, W Winckler, K Ardlie, SB Gabriel… - Nature, 2013 - nature.com
Major international projects are underway that are aimed at creating a comprehensive catalogue
of all the genes responsible for the initiation and progression of cancer 1 , 2 , 3 , 4 , 5 , 6 …

The international HapMap project

…, MJ Daly, P Deloukas, JA Douglas, SB Gabriel… - 2003 - deepblue.lib.umich.edu
The goal of the International HapMap Project is to determine the common patterns of DNA
sequence variation in the human genome and to make this information freely available in the …

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

…, K Chambert, DM Ruderfer, F Kuruvilla, SB Gabriel… - Nature, 2009 - nature.com
Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by
hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80% 1 , 2 . …