Publications by authors named "Kelly A Frazer"

100Publications

Revealing Instability: Genetic Variation Underlies Variability in mESC Pluripotency.

Cell Stem Cell 2020 Sep;27(3):347-349

Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2020.08.012DOI Listing
September 2020

Author Correction: Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants.

Nat Commun 2020 09 1;11(1):4426. Epub 2020 Sep 1.

Department of Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA, 92093, USA.

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http://dx.doi.org/10.1038/s41467-020-18341-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462847PMC
September 2020

Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants.

Nat Commun 2020 02 19;11(1):955. Epub 2020 Feb 19.

Department of Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA, 92093, USA.

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http://dx.doi.org/10.1038/s41467-020-14561-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031340PMC
February 2020

A Network of microRNAs Acts to Promote Cell Cycle Exit and Differentiation of Human Pancreatic Endocrine Cells.

iScience 2019 Nov 1;21:681-694. Epub 2019 Nov 1.

Departments of Pediatrics and Cellular & Molecular Medicine, Pediatric Diabetes Research Center, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.10.063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6889369PMC
November 2019

Fibrinogen gamma gene and risk of cancer-related venous thromboembolism.

Haematologica 2020 Jul 3;105(7):1963-1968. Epub 2019 Oct 3.

K.G. Jebsen Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway.

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http://dx.doi.org/10.3324/haematol.2019.224279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327659PMC
July 2020

Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.

Stem Cell Reports 2019 06 9;12(6):1342-1353. Epub 2019 May 9.

Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA; Cellular and Molecular Medicine East, 9500 Gilman Drive #0761, La Jolla, CA 92093-0761, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2019.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565613PMC
June 2019

Effect of prothrombotic genotypes on the risk of venous thromboembolism in patients with and without ischemic stroke. The Tromsø Study.

J Thromb Haemost 2019 05 12;17(5):749-758. Epub 2019 Mar 12.

K. G. Jebsen Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway.

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http://dx.doi.org/10.1111/jth.14410DOI Listing
May 2019

Identification of Common and Rare Genetic Variation Associated With Plasma Protein Levels Using Whole-Exome Sequencing and Mass Spectrometry.

Circ Genom Precis Med 2018 12;11(12):e002170

Department of Clinical Medicine, K.G. Jebsen Thrombosis Research and Expertise Center, UiT-The Arctic University of Norway (S.B.J., K.H., N.L., S.K.B., K.A.F., E.N.S., J.-B.H.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301071PMC
December 2018

Cell-Surface Marker Signature for Enrichment of Ventricular Cardiomyocytes Derived from Human Embryonic Stem Cells.

Stem Cell Reports 2018 09 16;11(3):828-841. Epub 2018 Aug 16.

School of Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA; Skaggs School of Pharmacy, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2018.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135222PMC
September 2018

Insights into the Mutational Burden of Human Induced Pluripotent Stem Cells from an Integrative Multi-Omics Approach.

Cell Rep 2018 07;24(4):883-894

Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183103
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http://dx.doi.org/10.1016/j.celrep.2018.06.091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467479PMC
July 2018

Efficient Prioritization of Multiple Causal eQTL Variants via Sparse Polygenic Modeling.

Genetics 2017 12 26;207(4):1301-1312. Epub 2017 Oct 26.

Department of Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, California 92093-0761

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http://dx.doi.org/10.1534/genetics.117.300435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5714449PMC
December 2017

High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells.

Stem Cell Reports 2017 04;8(4):1101-1111

Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2017.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390243PMC
April 2017

Pgltools: a genomic arithmetic tool suite for manipulation of Hi-C peak and other chromatin interaction data.

BMC Bioinformatics 2017 Apr 7;18(1):207. Epub 2017 Apr 7.

Institute for Genomic Medicine, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.

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http://dx.doi.org/10.1186/s12859-017-1621-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384132PMC
April 2017

Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells.

Cell Stem Cell 2017 04;20(4):533-546.e7

Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093-0419, USA; Department of Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA 92093-0419, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2017.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444918PMC
April 2017

Aberrant DNA Methylation in Human iPSCs Associates with MYC-Binding Motifs in a Clone-Specific Manner Independent of Genetics.

Cell Stem Cell 2017 04;20(4):505-517.e6

Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA 92093, USA; Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Bioinformatics and Systems Biology Program, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2017.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444384PMC
April 2017

Joint effects of cancer and variants in the factor 5 gene on the risk of venous thromboembolism.

Haematologica 2016 09 16;101(9):1046-53. Epub 2016 Jun 16.

K.G. Jebsen Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT -The Arctic University of Norway, Tromsø, Norway Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.

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http://dx.doi.org/10.3324/haematol.2016.147405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5060021PMC
September 2016

Kataegis Expression Signature in Breast Cancer Is Associated with Late Onset, Better Prognosis, and Higher HER2 Levels.

Cell Rep 2016 07 30;16(3):672-83. Epub 2016 Jun 30.

Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pediatrics and Rady Children's Hospital, Division of Genome Information Sciences, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.06.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4972030PMC
July 2016

Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study.

Circ Cardiovasc Genet 2016 Aug 21;9(4):375-83. Epub 2016 Jun 21.

From the Biomedical Sciences Graduate Program, University of California, San Diego, La Jolla (T.S.), Department of Pediatrics, Rady's Children's Hospital, San Diego, La Jolla, CA (E.N.S., H.M., K.A.F.); Institute for Genomic Medicine, University of California, San Diego, La Jolla (K.A.F.); Department of Clinical Medicine, K.G. Jebsen Thrombosis Research and Expertise Centre (TREC) (E.N.S., S.K.B., I.N., E.B.M., J.-B.H., K.A.F.), Department of Community Medicine (T.W., I.N.), and Brain and Circulation Research Group, Department of Clinical Medicine (E.B.M.), UiT The Arctic University of Norway; and Division of Internal Medicine, University Hospital of North Norway, Tromsø (S.K.B., J.-B.H.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982757PMC
August 2016

ADAR1 Activation Drives Leukemia Stem Cell Self-Renewal by Impairing Let-7 Biogenesis.

Cell Stem Cell 2016 08 9;19(2):177-191. Epub 2016 Jun 9.

Division of Regenerative Medicine, Department of Medicine, Moores Cancer Center and Sanford Consortium for Regenerative Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975616PMC
August 2016

Reversion to an embryonic alternative splicing program enhances leukemia stem cell self-renewal.

Proc Natl Acad Sci U S A 2015 Dec 30;112(50):15444-9. Epub 2015 Nov 30.

Division of Regenerative Medicine, Department of Medicine, Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093-0820;

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http://dx.doi.org/10.1073/pnas.1506943112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4687548PMC
December 2015

Systematic transcriptome analysis reveals tumor-specific isoforms for ovarian cancer diagnosis and therapy.

Proc Natl Acad Sci U S A 2015 Jun 26;112(23):E3050-7. Epub 2015 May 26.

Moores Cancer Center, Department of Pediatrics and Rady Children's Hospital, Institute for Genomic Medicine.

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http://dx.doi.org/10.1073/pnas.1508057112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466751PMC
June 2015

BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma.

J Transl Med 2015 Apr 16;13:122. Epub 2015 Apr 16.

Moores UCSD Cancer Center, 3855 Health Science Drive, Maildrop 0820, 92093, La Jolla, USA.

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http://dx.doi.org/10.1186/s12967-015-0485-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422481PMC
April 2015

An RNA editing fingerprint of cancer stem cell reprogramming.

J Transl Med 2015 Feb 12;13:52. Epub 2015 Feb 12.

Division of Regenerative Medicine, Department of Medicine, Moores Cancer Center at University of California, La Jolla, CA, 92093, USA.

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http://dx.doi.org/10.1186/s12967-014-0370-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341880PMC
February 2015

Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers.

PLoS Comput Biol 2015 Mar 13;11(3):e1004105. Epub 2015 Mar 13.

Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America; Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, California, United States of America; Institute for Genomic Medicine, University of California San Diego, La Jolla, California, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1004105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4358997PMC
March 2015

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

Genet Med 2015 Aug 6;17(8):660-7. Epub 2014 Nov 6.

1] Department of Pediatrics, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA [2] Clinical and Translational Research Institute, University of California, San Diego, La Jolla, California, USA [3] Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1038/gim.2014.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422778PMC
August 2015

Correction: Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Genome Med 2014 26;6(7):53. Epub 2014 Jul 26.

Division of Genome Information Sciences, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA USA ; Moores UCSD Cancer Center, University of California San Diego, La Jolla, CA USA ; Clinical and Translational Science Institute, University of California San Diego, La Jolla, CA USA.

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http://dx.doi.org/10.1186/s13073-014-0053-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165363PMC
September 2014

Network-based analysis identifies epigenetic biomarkers of esophageal squamous cell carcinoma progression.

Bioinformatics 2014 Nov 10;30(21):3054-61. Epub 2014 Jul 10.

Department of Computer Science and Information Engineering, National Cheng Kung University, Tainan 701, Taiwan, Moores Cancer Center, University of California San Diego, La Jolla, CA 92093, USA, Institute of Basic Medical Sciences, National Cheng Kung University, Tainan 701, Taiwan, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA 92093, USA, Department of General, Visceral and Cancer Surgery, University of Cologne, Köln, Germany, Institute for Genomic Medicine, University of California San Diego, La Jolla, CA 92093, USA, Department of Pharmacology and Institute of Medical Informatics, National Cheng Kung University, Tainan 701, Taiwan Department of Computer Science and Information Engineering, National Cheng Kung University, Tainan 701, Taiwan, Moores Cancer Center, University of California San Diego, La Jolla, CA 92093, USA, Institute of Basic Medical Sciences, National Cheng Kung University, Tainan 701, Taiwan, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA 92093, USA, Department of General, Visceral and Cancer Surgery, University of Cologne, Köln, Germany, Institute for Genomic Medicine, University of California San Diego, La Jolla, CA 92093, USA, Department of Pharmacology and Institute of Medical Informatics, National Cheng Kung University, Tainan 701, Taiwan.

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http://dx.doi.org/10.1093/bioinformatics/btu433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609006PMC
November 2014

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Genome Med 2014 29;6(5):43. Epub 2014 May 29.

Division of Genome Information Sciences, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA, USA ; Moores UCSD Cancer Center, University of California San Diego, La Jolla, CA, USA ; Clinical and Translational Science Institute, University of California San Diego, La Jolla, CA, USA.

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http://dx.doi.org/10.1186/gm559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062050PMC
June 2014

MiningABs: mining associated biomarkers across multi-connected gene expression datasets.

BMC Bioinformatics 2014 Jun 8;15:173. Epub 2014 Jun 8.

Department of Computer Science and Information Engineering, National Cheng Kung University, Tainan, Taiwan.

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http://dx.doi.org/10.1186/1471-2105-15-173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068973PMC
June 2014

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.

BMC Bioinformatics 2014 May 2;15:125. Epub 2014 May 2.

Department of Pediatrics and Rady Children's Hospital, University of California San Diego, San Diego, USA.

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http://dx.doi.org/10.1186/1471-2105-15-125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098776PMC
May 2014

Whole transcriptome sequencing enables discovery and analysis of viruses in archived primary central nervous system lymphomas.

PLoS One 2013 4;8(9):e73956. Epub 2013 Sep 4.

Moores Cancer Center, University of California San Diego, La Jolla, California, United States of America ; Bioinformatics and Systems Biology Graduate Program, University of California San Diego, La Jolla, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073956PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762708PMC
April 2014

Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing.

Bioinformatics 2013 Aug 27;29(15):1908-9. Epub 2013 May 27.

Bioinformatics Graduate Program, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, USA.

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http://dx.doi.org/10.1093/bioinformatics/btt305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712217PMC
August 2013

High-resolution mutational profiling suggests the genetic validity of glioblastoma patient-derived pre-clinical models.

PLoS One 2013 18;8(2):e56185. Epub 2013 Feb 18.

Bioinformatics and Systems Biology Graduate Program, University of California San Diego, La Jolla, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0056185PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575368PMC
August 2013

Decoding the human genome.

Authors:
Kelly A Frazer

Genome Res 2012 Sep;22(9):1599-601

Moores UCSD Cancer Center, Department of Pediatrics and Rady Children's Hospital, University of California at San Diego, La Jolla, California 92093, USA.

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http://genome.cshlp.org/cgi/doi/10.1101/gr.146175.112
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http://dx.doi.org/10.1101/gr.146175.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431476PMC
September 2012

Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens.

Nucleic Acids Res 2012 Aug 6;40(14):e107. Epub 2012 Apr 6.

Moores UCSD Cancer Center, Bioinformatics and Systems Biology Graduate Program, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA.

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http://dx.doi.org/10.1093/nar/gks299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413110PMC
August 2012

Sensitive gene fusion detection using ambiguously mapping RNA-Seq read pairs.

Bioinformatics 2011 Apr 16;27(8):1068-75. Epub 2011 Feb 16.

Bioinformatics and Systems Biology Program, Moores UCSD Cancer Center, Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.

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http://dx.doi.org/10.1093/bioinformatics/btr085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072550PMC
April 2011

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response.

Nature 2011 Feb;470(7333):264-8

Department of Pediatrics and Rady's Children's Hospital, University of California at San Diego, School of Medicine, La Jolla, California 92093, USA.

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http://dx.doi.org/10.1038/nature09753DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079517PMC
February 2011

Experimental selection of hypoxia-tolerant Drosophila melanogaster.

Proc Natl Acad Sci U S A 2011 Feb 24;108(6):2349-54. Epub 2011 Jan 24.

Department of Pediatrics, University of California at San Diego, La Jolla, CA 92093, USA.

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http://dx.doi.org/10.1073/pnas.1010643108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3038716PMC
February 2011

Accurate detection and genotyping of SNPs utilizing population sequencing data.

Genome Res 2010 Apr 11;20(4):537-45. Epub 2010 Feb 11.

Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA.

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http://genome.cshlp.org/cgi/doi/10.1101/gr.100040.109
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http://dx.doi.org/10.1101/gr.100040.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847757PMC
April 2010

Microdroplet-based PCR enrichment for large-scale targeted sequencing.

Nat Biotechnol 2009 Nov 1;27(11):1025-31. Epub 2009 Nov 1.

Scripps Genomic Medicine, Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, California, USA.

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http://dx.doi.org/10.1038/nbt.1583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779736PMC
November 2009

Enrichment of sequencing targets from the human genome by solution hybridization.

Genome Biol 2009 16;10(10):R116. Epub 2009 Oct 16.

Scripps Genomic Medicine, Scripps Translational Science Institute, The Scripps Research Institute, 3344 N Torrey Pines Court, La Jolla, CA 92037, USA.

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http://genomebiology.biomedcentral.com/articles/10.1186/gb-2
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http://dx.doi.org/10.1186/gb-2009-10-10-r116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784331PMC
January 2010

Elucidating the role of 8q24 in colorectal cancer.

Nat Genet 2009 Aug;41(8):868-9

Scripps Genomic Medicine, Scripps Translational Science Institute and the Scripps Research Institute, La Jolla, California, USA.

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http://dx.doi.org/10.1038/ng0809-868DOI Listing
August 2009

Common vs. rare allele hypotheses for complex diseases.

Curr Opin Genet Dev 2009 Jun 28;19(3):212-9. Epub 2009 May 28.

Scripps Genomic Medicine, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States.

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http://linkinghub.elsevier.com/retrieve/pii/S0959437X0900088
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http://dx.doi.org/10.1016/j.gde.2009.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914559PMC
June 2009

Evaluation of next generation sequencing platforms for population targeted sequencing studies.

Genome Biol 2009 27;10(3):R32. Epub 2009 Mar 27.

Scripps Genomic Medicine, Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1186/gb-2009-10-3-r32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2691003PMC
July 2009

Human genetic variation and its contribution to complex traits.

Nat Rev Genet 2009 Apr;10(4):241-51

Scripps Genomic Medicine, Scripps Translational Science Institute and The Scripps Research Institute, La Jolla, California 92037, USA.

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http://www.nature.com/articles/nrg2554
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http://dx.doi.org/10.1038/nrg2554DOI Listing
April 2009

Genetic determinants of phenotypic diversity in humans.

Genome Biol 2008 Apr 24;9(4):215. Epub 2008 Apr 24.

Scripps Genomic Medicine, The Scripps Research Institute, North Torrey Pines Road MEM 275, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1186/gb-2008-9-4-215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643926PMC
April 2008

Genome-wide detection and characterization of positive selection in human populations.

Authors:
Pardis C Sabeti Patrick Varilly Ben Fry Jason Lohmueller Elizabeth Hostetter Chris Cotsapas Xiaohui Xie Elizabeth H Byrne Steven A McCarroll Rachelle Gaudet Stephen F Schaffner Eric S Lander Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda Todd A Johnson James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):913-8

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687721PMC
October 2007

A second generation human haplotype map of over 3.1 million SNPs.

Authors:
Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):851-61

The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689609PMC
October 2007

In vitro human keratinocyte migration rates are associated with SNPs in the KRT1 interval.

PLoS One 2007 Aug 1;2(8):e697. Epub 2007 Aug 1.

Perlegen Sciences, Mountain View, California, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1933256PMC
August 2007

The genomics gold rush.

JAMA 2007 Jul;298(2):218-21

Scripps Genomic Medicine, Scripps Health, and The Scripps Research Institute, La Jolla, California 92037, USA.

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July 2007

Evaluation of the SNP tagging approach in an independent population sample--array-based SNP discovery in Sami.

Hum Genet 2007 Sep 7;122(2):141-50. Epub 2007 Jun 7.

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden.

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September 2007

The resequencing imperative.

Nat Genet 2007 Apr;39(4):439-40

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http://www.nature.com/articles/ng0407-439
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April 2007