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1 News 92 Publications 17 Members

Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.

Kooner, Jaspal S Chambers, John C Aguilar-Salinas, Carlos A Hinds, David A Hyde, Craig L Warnes, Gregory R Gómez Pérez, Francisco J Frazer, Kelly A Elliott, Paul Scott, James ...

Published in Nature genetics

We tested over 267,000 SNPs in 1,005 Northern Europeans and 248,000 in 1,006 Indian Asians for association with triglycerides and HDL cholesterol, with replication in 10,536 subjects. We found association of a nonsynonymous SNP (rs3812316, G771C, Gln241His) in MLXIPL with plasma triglyceride levels (combined P = 1.4 x 10(-10)). MLXIPL coordinates t...

A genome-wide approach to identifying novel-imprinted genes

Pollard, Ks Serre, D Wang, X Tao, H Grundberg, E Hudson, Tj Clark, Ag Kelly A. Frazer

Published in Annual Review of Genomics and Human Genetics

Faithful expression of the human 5q31 cytokine cluster in transgenic mice.

Lacy, Da Wang, Ze Symula, Dj Mcarthur, Cj Rubin, Em Kelly A. Frazer Locksley, Rm

Published in The Journal of Immunology

Interleukins -4, -5, and -13, cardinal cytokines produced by Th2 cells, are coordinately expressed and clustered in 150-kb syntenic regions on mouse chromosome 11 and human chromosome 5q31. We analyzed two sets of human yeast artificial chromosome transgenic mice that contained the 5q31 cytokines to assess whether conserved sequences required for t...

VISTA : visualizing global DNA sequence alignments of arbitrary length.

Mayor, C Brudno, M Schwartz, Jr Poliakov, A Rubin, Em Kelly A. Frazer Pachter, Ls Dubchak, I

Published in Bioinformatics

Common sequence polymorphisms shaping genetic diversity in Arabidopsis thaliana.

Clark, Rm Schweikert, G Toomajian, C Ossowski, S Zeller, G Shinn, P Warthmann, N Hu, Tt Fu, G Hinds, Da ...

Published in Science

The genomes of individuals from the same species vary in sequence as a result of different evolutionary processes. To examine the patterns of, and the forces shaping, sequence variation in Arabidopsis thaliana, we performed high-density array resequencing of 20 diverse strains (accessions). More than 1 million nonredundant single-nucleotide polymor...

Whole-genome patterns of common DNA variation in three human populations.

Hinds, Da Stuve, Ll Nilsen, Gb Halperin, E Eskin, E Ballinger, Dg Kelly A. Frazer Cox, Dr

Published in Science

Individual differences in DNA sequence are the genetic basis of human variability. We have characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide polymorphisms (SNPs) in 71 Americans of European, African, and Asian ancestry. Our results indicate that these SNPs capture most common genetic variati...

Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functional.

Kelly A. Frazer Tao, H Osoegawa, K De Jong, Pj Chen, X Doherty, Mf Cox, Dr

Published in Genome Research

Cross-species DNA sequence comparison is a fundamental method for identifying biologically important elements, because functional sequences are evolutionarily conserved, wheres nonfunctional sequences drift. A recent genome-wide comparison of human and mouse DNA discovered over 200,000 conserved noncoding sequences with unknown function. Multispeci...

The nature, pattern and function of human sequence variation.

Eichler, Ee Kelly A. Frazer

Published in Genome Biology

Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia.

Shlush, Li Zandi, S Mitchell, A Chen, Wc Brandwein, Jm Gupta, V Kennedy, Ja Schimmer, Ad Schuh, Ac Yee, Kw ...

Published in Nature

In acute myeloid leukaemia (AML), the cell of origin, nature and biological consequences of initiating lesions, and order of subsequent mutations remain poorly understood, as AML is typically diagnosed without observation of a pre-leukaemic phase. Here, highly purified haematopoietic stem cells (HSCs), progenitor and mature cell fractions from the ...

Fine-scale recombination patterns differ between chimpanzees and humans.

Ptak, Se Hinds, Da Koehler, K Nickel, B Patil, N Ballinger, Dg Przeworski, M Kelly A. Frazer Pääbo, S

Published in Nature Genetics

Recombination rates seem to vary extensively along the human genome. Pedigree analysis suggests that rates vary by an order of magnitude when measured at the megabase scale, and at a finer scale, sperm typing studies point to the existence of recombination hotspots. These are short regions (1-2 kb) in which recombination rates are 10-1,000 times hi...

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