Research Topics
Genomes and Genes | Kelly A FrazerSummaryAffiliation: Scripps Clinic Country: USA Publications
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Publications
A sequence-based variation map of 8.27 million SNPs in inbred mouse strainsKelly A Frazer
Perlegen Sciences, 2021 Stierlin Court, Mountain View, California 94043, USA
Nature 448:1050-3. 2007..The considerable regional redundancy of the SNP data will facilitate imputation of the majority of these genotypes in less-densely typed classical inbred strains to provide a complete view of variation in additional strains...- Whole-genome patterns of common DNA variation in three human populationsDavid A Hinds
Perlegen Sciences Inc, 2021 Stierlin Court, Mountain View, CA 94043, USA
Science 307:1072-9. 2005..Our data provide a tool for exploring many questions that remain regarding the causal role of common human DNA variation in complex human traits and for investigating the nature of genetic variation within and between human populations... 
Segmental phylogenetic relationships of inbred mouse strains revealed by fine-scale analysis of sequence variation across 4.6 mb of mouse genomeKelly A Frazer
Perlegen Sciences, Mountain View, California 94043, USA
Genome Res 14:1493-500. 2004....- Analysis of allelic differential expression in human white blood cellsP V Krishna Pant
Perlegen Sciences, Mountain View, California 94043, USA
Genome Res 16:331-9. 2006.... - Application of pooled genotyping to scan candidate regions for association with HDL cholesterol levelsDavid A Hinds
Perlegen Sciences, 2021 Stierlin Court, Mountain View, CA 94043, USA
Hum Genomics 1:421-34. 2004..Our study is among the first to demonstrate the application of pooled genotyping followed by confirmation with individual genotyping to identify genetic determinants of a complex trait... - Allele-specific KRT1 expression is a complex traitHeng Tao
Perlegen Sciences, Mountain View, California, USA
PLoS Genet 2:e93. 2006.... - Common deletions and SNPs are in linkage disequilibrium in the human genomeDavid A Hinds
Perlegen Sciences, Inc, 2021 Stierlin Court, Mountain View, California 94043, USA
Nat Genet 38:82-5. 2006.... - In vitro human keratinocyte migration rates are associated with SNPs in the KRT1 intervalHeng Tao
Perlegen Sciences, Mountain View, California, United States of America
PLoS ONE 2:e697. 2007..Furthermore we show that in vitro cell assays can successfully be used to deconstruct complex traits into simple biological model systems for genetic association studies... - Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functionalKelly A Frazer
Perlegen Sciences, Mountain View, California 95051, USA
Genome Res 14:367-72. 2004..These findings suggest that functional conserved noncoding human sequences can be missing in other mammals, even closely related primate species... - VISTA: computational tools for comparative genomicsKelly A Frazer
Perlegen Sciences, Inc, 2021 Stierlin Court, Mountain View, CA 94043, USA
Nucleic Acids Res 32:W273-9. 2004..We illustrate capabilities of the VISTA site by the analysis of a 180 kb interval on human chromosome 5 that encodes for the kinesin family member 3A (KIF3A) protein... - Genomic DNA insertions and deletions occur frequently between humans and nonhuman primatesKelly A Frazer
Perlegen Sciences, Mountain View, California 94043, USA
Genome Res 13:341-6. 2003..These DNA rearrangements are commonly found in genic intervals, and thus provide natural starting points for focused investigations of qualitative and quantitative gene expression differences between humans and other primates... - Evaluation of the SNP tagging approach in an independent population sample--array-based SNP discovery in SamiAsa Johansson
Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden
Hum Genet 122:141-50. 2007..These results point to serious limitations in the transferability of common tagSNPs to capture random sequence variation, even between closely related populations, such as CEU and Sami... - Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopyJoseph Donfack
Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
Respir Res 6:145. 2005..Evolutionarily conserved sequences likely have biological function... - Genome-wide detection and characterization of positive selection in human populationsPardis C Sabeti
Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Nature 449:913-8. 2007.... - A second generation human haplotype map of over 3.1 million SNPsKelly A Frazer
The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA
Nature 449:851-61. 2007..Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations... - The nature, pattern and function of human sequence variationEvan E Eichler
Department of Genetics, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA
Genome Biol 5:318. 2004 - Fine-scale recombination patterns differ between chimpanzees and humansSusan E Ptak
Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6 04103, Leipzig, Germany
Nat Genet 37:429-34. 2005..Therefore, the recombination landscape has changed markedly between the two species... - Common sequence polymorphisms shaping genetic diversity in Arabidopsis thalianaRichard M Clark
Department of Molecular Biology, Max Planck Institute for Developmental Biology, 72076 Tubingen, Germany
Science 317:338-42. 2007..Analyzing the polymorphisms we describe in larger sets of accessions will enable a detailed understanding of forces shaping population-wide sequence variation in A. thaliana... - The genomics gold rushEric J Topol
Scripps Genomic Medicine, Scripps Health, and The Scripps Research Institute, La Jolla, California 92037, USA
JAMA 298:218-21. 2007 - The resequencing imperativeEric J Topol
Nat Genet 39:439-40. 2007 - High-resolution whole-genome association study of Parkinson diseaseDemetrius M Maraganore
Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA
Am J Hum Genet 77:685-93. 2005..07 x 10(-6); P=2.96 x 10(-5)) tagged the PARK10 late-onset PD susceptibility locus. Independent replication across populations will clarify the role of the genomic loci tagged by these SNPs in conferring PD susceptibility... 
Genome-wide scan identifies variation in MLXIPL associated with plasma triglyceridesJaspal S Kooner
National Heart and Lung Institute, Imperial College London, UK
Nat Genet 40:149-51. 2008..4 x 10(-10)). MLXIPL coordinates transcriptional regulation of enzymes that channel glycolytic end-products into lipogenesis and energy storage, making MLXIPL a plausible 'thrifty gene'...