Robert C Onofrio
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Explore the profile of Robert C Onofrio including associated specialties, affiliations and a list of published articles.
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17105
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Recent Articles
11.
Stransky N, Egloff A, Tward A, Kostic A, Cibulskis K, Sivachenko A, et al.
Science
. 2011 Jul;
333(6046):1157-60.
PMID: 21798893
Head and neck squamous cell carcinoma (HNSCC) is a common, morbid, and frequently lethal malignancy. To uncover its mutational spectrum, we analyzed whole-exome sequencing data from 74 tumor-normal pairs. The...
12.
Shea J, Agarwala V, Philippakis A, Maguire J, Banks E, DePristo M, et al.
Nat Genet
. 2011 Jul;
43(8):801-5.
PMID: 21775993
Noncoding variants at human chromosome 9p21 near CDKN2A and CDKN2B are associated with type 2 diabetes, myocardial infarction, aneurysm, vertical cup disc ratio and at least five cancers. Here we...
13.
Barretina J, Taylor B, Banerji S, Ramos A, Lagos-Quintana M, DeCarolis P, et al.
Nat Genet
. 2010 Jul;
42(8):715-21.
PMID: 20601955
Soft-tissue sarcomas, which result in approximately 10,700 diagnoses and 3,800 deaths per year in the United States, show remarkable histologic diversity, with more than 50 recognized subtypes. However, knowledge of...
14.
Berger M, Levin J, Vijayendran K, Sivachenko A, Adiconis X, Maguire J, et al.
Genome Res
. 2010 Feb;
20(4):413-27.
PMID: 20179022
Global studies of transcript structure and abundance in cancer cells enable the systematic discovery of aberrations that contribute to carcinogenesis, including gene fusions, alternative splice isoforms, and somatic mutations. We...
15.
Ding L, Getz G, Wheeler D, Mardis E, McLellan M, Cibulskis K, et al.
Nature
. 2008 Oct;
455(7216):1069-75.
PMID: 18948947
Determining the genetic basis of cancer requires comprehensive analyses of large collections of histopathologically well-classified primary tumours. Here we report the results of a collaborative study to discover somatic mutations...
16.
Dutt A, Salvesen H, Chen T, Ramos A, Onofrio R, Hatton C, et al.
Proc Natl Acad Sci U S A
. 2008 Jun;
105(25):8713-7.
PMID: 18552176
Oncogenic activation of tyrosine kinases is a common mechanism of carcinogenesis and, given the druggable nature of these enzymes, an attractive target for anticancer therapy. Here, we show that somatic...
17.
Sabeti P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, et al.
Nature
. 2007 Oct;
449(7164):913-8.
PMID: 17943131
With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over...
18.
Frazer K, Ballinger D, Cox D, Hinds D, Stuve L, Boudreau A, et al.
Nature
. 2007 Oct;
449(7164):851-61.
PMID: 17943122
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common...
19.
de Bakker P, Burtt N, Graham R, Guiducci C, Yelensky R, Drake J, et al.
Nat Genet
. 2006 Oct;
38(11):1298-303.
PMID: 17057720
A general question for linkage disequilibrium-based association studies is how power to detect an association is compromised when tag SNPs are chosen from data in one population sample and then...
20.
Winckler W, Myers S, Richter D, Onofrio R, McDonald G, Bontrop R, et al.
Science
. 2005 Feb;
308(5718):107-11.
PMID: 15705809
We compared fine-scale recombination rates at orthologous loci in humans and chimpanzees by analyzing polymorphism data in both species. Strong statistical evidence for hotspots of recombination was obtained in both...