Research Topics
| J C MullikinSummaryAffiliation: Wellcome Trust Genome Campus Country: UK Publications
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Detail Information
Publications
The phusion assemblerJames C Mullikin
Informatics Department, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Genome Res 13:81-90. 2003..The mouse data was generated by the Mouse Genome Sequencing Consortium. The C. briggsae sequence was generated at The Wellcome Trust Sanger Institute and the Genome Sequencing Center, Washington University School of Medicine...
The DNA sequence and analysis of human chromosome 6A J Mungall
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Nature 425:805-11. 2003..Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome...
The DNA sequence of the human X chromosomeMark T Ross
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Nature 434:325-37. 2005..Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence...
The DNA sequence and comparative analysis of human chromosome 20P Deloukas
The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
Nature 414:865-71. 2001....
SSAHA: a fast search method for large DNA databasesZ Ning
Informatics Division, The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Genome Res 11:1725-9. 2001..The SSAHA algorithm is used for high-throughput single nucleotide polymorphism (SNP) detection and very large scale sequence assembly. Also, it provides Web-based sequence search facilities for Ensembl projects...
Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strainsDavid J Adams
The Wellcome Trust Sanger Institute, Hinxton, Cambs, CB10 1SA, UK
Nat Genet 37:532-6. 2005..Collectively, these genomic changes denote the level and direction of allele fixation that has occurred during inbreeding and provide a basis for defining what makes these mouse strains unique...
An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencingElliott H Margulies
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 102:4795-800. 2005....
The genome sequence of Caenorhabditis briggsae: a platform for comparative genomicsLincoln D Stein
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
PLoS Biol 1:E45. 2003..elegans genome. Based on similarity to C. briggsae, we found strong evidence for 1,300 new C. elegans genes. In addition, comparisons of the two genomes will help to understand the evolutionary forces that mold nematode genomes...
An intermediate grade of finished genomic sequence suitable for comparative analysesRobert W Blakesley
NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genome Res 14:2235-44. 2004..Our experience to date demonstrates that comparative-grade sequence finishing represents a practical and affordable option for sequence refinement en route to comparative analyses...
Initial sequencing and comparative analysis of the mouse genomeRobert H Waterston
Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA
Nature 420:520-62. 2002....
Initial sequence and comparative analysis of the cat genomeJoan U Pontius
Laboratory of Genomic Diversity, SAIC Frederick, Inc, NCI Frederick, Frederick, Maryland 21702, USA
Genome Res 17:1675-89. 2007..9-fold) coverage mammal genome sequence...
Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in EuropeansAlon Keinan
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 39:1251-5. 2007..Our analysis shows that East Asian and northern European ancestors shared the same population bottleneck expanding out of Africa but that both also experienced more recent genetic drift, which was greater in East Asians...
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...
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....
Revisiting the mouse mitochondrial DNA sequenceMaria Pilar Bayona-Bafaluy
Departamento de Bioquimica y Biologia Molecular y Celular, Universidad de Zaragoza, Miguel Servet 177, Zaragoza 50013, Spain
Nucleic Acids Res 31:5349-55. 2003..Consequently, the mtDNA of the strain used for the mouse genome project (C57BL/6J) is proposed as the new standard for the mouse mtDNA sequence...
Construction, alignment and analysis of twelve framework physical maps that represent the ten genome types of the genus OryzaHyeran Kim
Arizona Genomics Institute, Department of Plant Sciences, University of Arizona, Tucson, Arizona 85721, USA
Genome Biol 9:R45. 2008..sativa ssp. japonica reference genome sequence. Over 932 Mb of end sequence was analyzed for repeats, simple sequence repeats, miRNA and single nucleotide variations, providing the most extensive analysis of Oryza sequence to date...
Mapping and sequencing of structural variation from eight human genomesJeffrey M Kidd
Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA
Nature 453:56-64. 2008..These data provide the first high-resolution sequence map of human structural variation--a standard for genotyping platforms and a prelude to future individual genome sequencing projects...
Functional constraint and small insertions and deletions in the ENCODE regions of the human genomeTaane G Clark
Department of Epidemiology and Public Health, Imperial College, Norfolk Place, London, W2 1PG, UK
Genome Biol 8:R180. 2007..We relate indels to known genomic annotation features and measures of evolutionary constraint...
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectEwan Birney
Nature 447:799-816. 2007..Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function...
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genomeElliott H Margulies
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Genome Res 17:760-74. 2007..Together, these findings demonstrate and quantify how many genomic functional elements await basic molecular characterization...
Completing the map of human genetic variationEvan E Eichler
Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
Nature 447:161-5. 2007
Conserved and novel Wnt clusters in the basal eumetazoan Nematostella vectensisJames C Sullivan
Department of Biology, Boston University, 5 Cummington Street, Boston, MA 02215, USA
Dev Genes Evol 217:235-9. 2007..Wnt6 and Wnt10 are not expressed in a spatially or temporally contiguous manner, and Wnt5 and Wnt7 are expressed in different germ layers...
StellaBase: the Nematostella vectensis Genomics DatabaseJames C Sullivan
Department of Biology, Boston University, 5 Cummington Street, Boston, MA 02215, USA
Nucleic Acids Res 34:D495-9. 2006..In addition, StellaBase provides a framework for the integration of additional species-specific databases into CnidBase. StellaBase is available at http://www.stellabase.org...
Human genome sequence variation and the influence of gene history, mutation and recombinationDavid E Reich
Whitehead Institute/MIT Center for Genome Research, One Kendall Square, Cambridge, Massachusetts 02139, USA
Nat Genet 32:135-42. 2002....
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sitesGregory E Crawford
Genome Technology Branch and National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 101:992-7. 2004....
The mosaic structure of variation in the laboratory mouse genomeClaire M Wade
Whitehead Institute for Biomedical Research and Whitehead/MIT Center for Genome Research, 9 Cambridge Center, Cambridge, Massachusetts 02139, USA
Nature 420:574-8. 2002..These observations have important implications for the design and interpretation of positional cloning experiments...
Sequences, annotation and single nucleotide polymorphism of the major histocompatibility complex in the domestic catNaoya Yuhki
Laboratory of Genomic Diversity, National Cancer Institute at Frederick, Frederick, Maryland, United States of America
PLoS ONE 3:e2674. 2008..84 Mbp (0.00411 SNP per bp), which is 2.4 times higher rate than average heterozygous region in the WGS (0.0017 SNP per bp genome), and slightly higher than the SNP rate observed in human MHC (0.00337 SNP per bp)...
