Sequencing and analysis of an Irish human genome

[1]  A. Andriulli,et al.  Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early‐onset patients with inflammatory bowel disease , 2010, Inflammatory bowel diseases.

[2]  J. Marchini,et al.  Genotype imputation for genome-wide association studies , 2010, Nature Reviews Genetics.

[3]  P. Shannon,et al.  Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing , 2010, Science.

[4]  C. Wijmenga,et al.  Genome-wide association analysis in primary sclerosing cholangitis. , 2010, Gastroenterology.

[5]  H. Bandelt,et al.  The Archaeogenetics of Europe , 2010, Current Biology.

[6]  Tom H. Pringle,et al.  Complete Khoisan and Bantu genomes from southern Africa , 2010, Nature.

[7]  Hugues Roest Crollius,et al.  Human and Non-Human Primate Genomes Share Hotspots of Positive Selection , 2010, PLoS genetics.

[8]  P. Stankiewicz,et al.  Structural variation in the human genome and its role in disease. , 2010, Annual review of medicine.

[9]  Robert B. Hartlage,et al.  This PDF file includes: Materials and Methods , 2009 .

[10]  Jeremiah D. Degenhardt,et al.  Targets of balancing selection in the human genome. , 2009, Molecular biology and evolution.

[11]  Judy H. Cho,et al.  Finding the missing heritability of complex diseases , 2009, Nature.

[12]  Ewout J N Groen,et al.  Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis , 2009, Nature Genetics.

[13]  P. Park.  ChIP–seq: advantages and challenges of a maturing technology , 2009, Nature Reviews Genetics.

[14]  Ken Chen,et al.  Recurring mutations found by sequencing an acute myeloid leukemia genome. , 2009, The New England journal of medicine.

[15]  Thomas D. Wu,et al.  A highly annotated whole-genome sequence of a Korean individual , 2009, Nature.

[16]  F. Collins,et al.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits , 2009, Proceedings of the National Academy of Sciences.

[17]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[18]  P. Donnelly,et al.  A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies , 2009, PLoS genetics.

[19]  Huanming Yang,et al.  SNP detection for massively parallel whole-genome resequencing. , 2009, Genome research.

[20]  Sangsoo Kim,et al.  The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. , 2009, Genome research.

[21]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[22]  P. Visscher,et al.  Geographical structure and differential natural selection among North European populations. , 2009, Genome research.

[23]  R. Nielsen,et al.  Correcting Estimators of θ and Tajima's D for Ascertainment Biases Caused by the Single-Nucleotide Polymorphism Discovery Process , 2009, Genetics.

[24]  Albert J. Vilella,et al.  EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates. , 2009, Genome research.

[25]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.

[26]  Israel Steinfeld,et al.  BMC Bioinformatics BioMed Central , 2008 .

[27]  Dawei Li,et al.  The diploid genome sequence of an Asian individual , 2008, Nature.

[28]  Amit R. Indap,et al.  Genes mirror geography within Europe , 2008, Nature.

[29]  Nancy F. Hansen,et al.  Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry , 2008, Nature.

[30]  L. Duret,et al.  Pervasive positive selection on duplicated and nonduplicated vertebrate protein coding genes. , 2008, Genome research.

[31]  B. Williams,et al.  Mapping and quantifying mammalian transcriptomes by RNA-Seq , 2008, Nature Methods.

[32]  S. López,et al.  Overdominance in the human genome and olfactory receptor activity. , 2008, Molecular biology and evolution.

[33]  J. Lupski,et al.  The complete genome of an individual by massively parallel DNA sequencing , 2008, Nature.

[34]  Orla Hardiman,et al.  A genome-wide association study of sporadic ALS in a homogenous Irish population. , 2007, Human molecular genetics.

[35]  K. H. Wolfe,et al.  A burst of protein sequence evolution and a prolonged period of asymmetric evolution follow gene duplication in yeast. , 2007, Genome research.

[36]  M. Silverberg,et al.  Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis , 2008, Mucosal Immunology.

[37]  Joshua D. Starmer,et al.  AWclust: point-and-click software for non-parametric population structure analysis , 2008, BMC Bioinformatics.

[38]  B. Browning,et al.  Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. , 2007, American journal of human genetics.

[39]  Zhaohui S. Qin,et al.  A second generation human haplotype map of over 3.1 million SNPs , 2007, Nature.

[40]  Pardis C Sabeti,et al.  Genome-wide detection and characterization of positive selection in human populations , 2007, Nature.

[41]  Timothy B. Stockwell,et al.  The Diploid Genome Sequence of an Individual Human , 2007, PLoS biology.

[42]  Carlos D Bustamante,et al.  Localizing Recent Adaptive Evolution in the Human Genome , 2007, PLoS genetics.

[43]  Albert J. Vilella,et al.  Genome-wide DNA polymorphism analyses using VariScan , 2006, BMC Bioinformatics.

[44]  R. McManus,et al.  A genome-wide approach to identify genetic loci with a signature of natural selection in the Irish population , 2006, Genome Biology.

[45]  Elaine R Mardis,et al.  Anticipating the $1,000 genome , 2006, Genome Biology.

[46]  Pardis C Sabeti,et al.  Positive Natural Selection in the Human Lineage , 2006, Science.

[47]  Xiaoquan Wen,et al.  Correction: A Map of Recent Positive Selection in the Human Genome , 2006, PLoS Biology.

[48]  J. Pritchard,et al.  A Map of Recent Positive Selection in the Human Genome , 2006, PLoS biology.

[49]  Shuichi Matsumura,et al.  Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites , 1975, Science.

[50]  P. Forster,et al.  The Longue Durée of genetic ancestry: multiple genetic marker systems and Celtic origins on the Atlantic facade of Europe. , 2004, American journal of human genetics.

[51]  M. Stephens,et al.  Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. , 2003, Genetics.

[52]  Alan F. Scott,et al.  Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders , 2002, Nucleic Acids Res..

[53]  International Human Genome Sequencing Consortium.  Initial sequencing and analysis of the human genome , 2001, Nature.

[54]  A. Cann.  Genomes , 2012, Stadler Genetics Symposia Series.

[55]  R J Mitchell,et al.  Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. , 2000, American journal of human genetics.

[56]  P. Donnelly,et al.  Inference of population structure using multilocus genotype data. , 2000, Genetics.

[57]  D. Turnbull,et al.  Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA , 1999, Nature Genetics.

[58]  D. Cooper,et al.  Human Gene Mutation Database , 1996, Human Genetics.

[59]  H. Bandelt,et al.  Paleolithic and neolithic lineages in the European mitochondrial gene pool. , 1996, American journal of human genetics.

[60]  F. Tajima.  Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. , 1989, Genetics.