Chris Tyler-Smith

Summary

Affiliation: Wellcome Trust Genome Campus
Country: UK

Publications

  1. pmc 'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care
    Angus J Clarke
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales CF14 4XN, UK
    Hum Genomics 6:11. 2012
  2. pmc A world in a grain of sand: human history from genetic data
    Vincenza Colonna
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK
    Genome Biol 12:234. 2011
  3. pmc Y-chromosomal diversity in Lebanon is structured by recent historical events
    Pierre A Zalloua
    The Lebanese American University, Chouran, Beirut 1102 2801, Lebanon
    Am J Hum Genet 82:873-82. 2008
  4. pmc Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing
    Johanna Maria de Gruijter
    Department of Forensic Molecular Biology, Erasmus MC University Medical Center, PO Box 2040, Rotterdam, 3000 CA, The Netherlands
    Investig Genet 2:24. 2011
  5. pmc Comprehensive comparison of three commercial human whole-exome capture platforms
    - Asan
    Beijing Institute of Genomics, Chinese Academy of Sciences, No 7 Beitucheng West Road, Chaoyang District, Beijing 100029, China
    Genome Biol 12:R95. 2011
  6. pmc The functional spectrum of low-frequency coding variation
    Gabor T Marth
    Department of Biology, Boston College, 140 Commonwealth Avenue, Chestnut Hill, MA 02467, USA
    Genome Biol 12:R84. 2011
  7. pmc Sibling rivalry among paralogs promotes evolution of the human brain
    Chris Tyler-Smith
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Cell 149:737-9. 2012
  8. pmc Variation of 52 new Y-STR loci in the Y Chromosome Consortium worldwide panel of 76 diverse individuals
    Si Keun Lim
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Int J Legal Med 121:124-7. 2007
  9. pmc Genetic variation in Northern Thailand Hill Tribes: origins and relationships with social structure and linguistic differences
    Davide Besaggio
    Dipartimento di Biologia ed Evoluzione, Universita di Ferrara, Via L, Borsari 46, 44100 Ferrara, Italy
    BMC Evol Biol 7:S12. 2007
  10. pmc An evolutionary perspective on Y-chromosomal variation and male infertility
    Chris Tyler-Smith
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridgeshire, UK
    Int J Androl 31:376-82. 2008

Collaborators

Detail Information

Publications75

  1. pmc 'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care
    Angus J Clarke
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales CF14 4XN, UK
    Hum Genomics 6:11. 2012
    ....
  2. pmc A world in a grain of sand: human history from genetic data
    Vincenza Colonna
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK
    Genome Biol 12:234. 2011
    ..To see a world in a grain of sand ...William Blake, Auguries of Innocence...
  3. pmc Y-chromosomal diversity in Lebanon is structured by recent historical events
    Pierre A Zalloua
    The Lebanese American University, Chouran, Beirut 1102 2801, Lebanon
    Am J Hum Genet 82:873-82. 2008
    ....
  4. pmc Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing
    Johanna Maria de Gruijter
    Department of Forensic Molecular Biology, Erasmus MC University Medical Center, PO Box 2040, Rotterdam, 3000 CA, The Netherlands
    Investig Genet 2:24. 2011
    ..abstract:..
  5. pmc Comprehensive comparison of three commercial human whole-exome capture platforms
    - Asan
    Beijing Institute of Genomics, Chinese Academy of Sciences, No 7 Beitucheng West Road, Chaoyang District, Beijing 100029, China
    Genome Biol 12:R95. 2011
    ..Currently, there are several commercial human exome capture platforms; however, the relative performances of these have not been characterized sufficiently to know which is best for a particular study...
  6. pmc The functional spectrum of low-frequency coding variation
    Gabor T Marth
    Department of Biology, Boston College, 140 Commonwealth Avenue, Chestnut Hill, MA 02467, USA
    Genome Biol 12:R84. 2011
    ....
  7. pmc Sibling rivalry among paralogs promotes evolution of the human brain
    Chris Tyler-Smith
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Cell 149:737-9. 2012
    ..Two papers in this issue suggest that partial duplication of SRGAP2, producing an incomplete protein that antagonizes the original, contributed to human brain evolution...
  8. pmc Variation of 52 new Y-STR loci in the Y Chromosome Consortium worldwide panel of 76 diverse individuals
    Si Keun Lim
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Int J Legal Med 121:124-7. 2007
    ..Ten loci showed occasional missing alleles, duplicated peaks or intermediate-sized alleles...
  9. pmc Genetic variation in Northern Thailand Hill Tribes: origins and relationships with social structure and linguistic differences
    Davide Besaggio
    Dipartimento di Biologia ed Evoluzione, Universita di Ferrara, Via L, Borsari 46, 44100 Ferrara, Italy
    BMC Evol Biol 7:S12. 2007
    ..Using both original and published data on the Hill Tribes and several other Asian populations, we focused on all these aspects...
  10. pmc An evolutionary perspective on Y-chromosomal variation and male infertility
    Chris Tyler-Smith
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridgeshire, UK
    Int J Androl 31:376-82. 2008
    ....
  11. pmc Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation
    Yali Xue
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, United Kingdom
    Genetics 183:1065-77. 2009
    ....
  12. pmc Adaptive evolution of UGT2B17 copy-number variation
    Yali Xue
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK
    Am J Hum Genet 83:337-46. 2008
    ..In contrast, diversity was low in East Asia where a single haplotype predominated, suggesting positive selection for the deletion in this part of the world...
  13. pmc FOXP2 Targets Show Evidence of Positive Selection in European Populations
    Qasim Ayub
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK Electronic address
    Am J Hum Genet 92:696-706. 2013
    ....
  14. pmc A map of human genome variation from population-scale sequencing
    Richard M Durbin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Nature 467:1061-73. 2010
    ..These methods and public data will support the next phase of human genetic research...
  15. pmc Origins and functional impact of copy number variation in the human genome
    Donald F Conrad
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA UK
    Nature 464:704-12. 2010
    ....
  16. pmc A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations
    Wentao Shi
    The Wellcome Trust Sanger Institute, Hinxton, Cambs, United Kingdom
    Mol Biol Evol 27:385-93. 2010
    ..However, some unexpected demographic histories were also found, including low growth rates in the Hazara and Kalash from Pakistan and recent expansion of the Mozabites in North Africa...
  17. pmc Relative impact of nucleotide and copy number variation on gene expression phenotypes
    Barbara E Stranger
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Science 315:848-53. 2007
    ..Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans...
  18. pmc A calibrated human Y-chromosomal phylogeny based on resequencing
    Wei Wei
    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom
    Genome Res 23:388-95. 2013
    ..In all, we provide a nearly 10-fold increase in the number of Y markers with phylogenetic information, and novel historical insights derived from placing them on a calibrated phylogenetic tree...
  19. pmc Spread of an inactive form of caspase-12 in humans is due to recent positive selection
    Yali Xue
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs CB10 1SA, United Kingdom
    Am J Hum Genet 78:659-70. 2006
    ..We further propose that its selective advantage was sepsis resistance in populations that experienced more infectious diseases as population sizes and densities increased...
  20. pmc High altitude adaptation in Daghestani populations from the Caucasus
    Luca Pagani
    The Wellcome Trust Sanger Institute, Hinxton, UK
    Hum Genet 131:423-33. 2012
    ..These variants illustrate both the common pathways of adaptation to high altitude in different populations and features specific to the Daghestani populations, showing how even a mildly hypoxic environment can lead to genetic adaptation...
  21. pmc Variation of the oxytocin/neurophysin I (OXT) gene in four human populations
    Yang Xu
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs, CB10 1SA, UK
    J Hum Genet 53:637-43. 2008
    ....
  22. pmc Y-chromosomal insights into the genetic impact of the caste system in India
    Tatiana Zerjal
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs, CB10 1SA, UK
    Hum Genet 121:137-44. 2007
    ..In the other castes, there may be either larger effective population sizes, or less strict isolation, or both...
  23. pmc A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs
    Bryndis Yngvadottir
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs CB10 1SA, UK
    Am J Hum Genet 84:224-34. 2009
    ..This study underlines the extent of variation in gene content within humans and emphasizes the importance of understanding this type of variation...
  24. pmc Insights into hominid evolution from the gorilla genome sequence
    Aylwyn Scally
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK
    Nature 483:169-75. 2012
    ..The use of the genome sequence in these and future analyses will promote a deeper understanding of great ape biology and evolution...
  25. pmc Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data
    Min Hu
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK
    Hum Genet 131:665-74. 2012
    ....
  26. doi request reprint Genetic variation in South Asia: assessing the influences of geography, language and ethnicity for understanding history and disease risk
    Qasim Ayub
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
    Brief Funct Genomic Proteomic 8:395-404. 2009
    ....
  27. pmc Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree
    Yali Xue
    The Wellcome Trust Sanger Institute, Hinxton, Cambs CB10 1SA, UK
    Curr Biol 19:1453-7. 2009
    ..0 x 10(-8)), consistent with estimates of 2.3 x 10(-8)-6.3 x 10(-8) mutations/nucleotide/generation for the same Y-chromosomal region from published human-chimpanzee comparisons depending on the generation and split times assumed...
  28. pmc Variation in genome-wide mutation rates within and between human families
    Donald F Conrad
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:712-4. 2011
    ..These observations suggest considerable variation in mutation rates within and between families...
  29. pmc The promise and reality of personal genomics
    Bryndis Yngvadottir
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK
    Genome Biol 10:237. 2009
    ..The publication of the highest-quality and best-annotated personal genome yet tells us much about sequencing technology, something about genetic ancestry, but still little of medical relevance...
  30. pmc A genome-wide survey of genetic variation in gorillas using reduced representation sequencing
    Aylwyn Scally
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom
    PLoS ONE 8:e65066. 2013
    ....
  31. pmc Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
    Yali Xue
    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Am J Hum Genet 91:1022-32. 2012
    ....
  32. pmc The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kind
    Yali Xue
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs CB10 1SA, UK
    Forensic Sci Int Genet 4:59-61. 2010
    ..Y-SNPs therefore now offer the best resolution of Y haplotypes and promise to distinguish almost every Y chromosome. This work illustrates the promise of current sequencing technology for forensically relevant applications...
  33. pmc A systematic survey of loss-of-function variants in human protein-coding genes
    Daniel G MacArthur
    Wellcome Trust Sanger Institute, Hinxton, UK
    Science 335:823-8. 2012
    ..We describe functional and evolutionary differences between LoF-tolerant and recessive disease genes and a method for using these differences to prioritize candidate genes found in clinical sequencing studies...
  34. pmc Geographical affinities of the HapMap samples
    Miao He
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
    PLoS ONE 4:e4684. 2009
    ..What effects could this non-standard ascertainment have on the interpretation of HapMap results?..
  35. pmc Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping
    Daniel J Turner
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK
    Nucleic Acids Res 36:e82. 2008
    ..4 kb apart on chromosome 7, and which influence an individual's susceptibility to systemic lupus erythematosus...
  36. pmc Global variation in copy number in the human genome
    Richard Redon
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 444:444-54. 2006
    ..The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies...
  37. pmc A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
    Nicole Soranzo
    Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 41:1182-90. 2009
    ....
  38. pmc Assaying chromosomal inversions by single-molecule haplotyping
    Daniel J Turner
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Nat Methods 3:439-45. 2006
    ..The generality of our methods to survey for, and genotype chromosomal inversions should help our understanding of the contribution of inversions to genomic variation, inherited diseases and cancer...
  39. pmc A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
    Patrick S Tarpey
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 41:535-43. 2009
    ..The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence...
  40. pmc The variant call format and VCFtools
    Petr Danecek
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Bioinformatics 27:2156-8. 2011
    ..VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API...
  41. pmc The functional impact of structural variation in humans
    Matthew E Hurles
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Trends Genet 24:238-45. 2008
    ....
  42. ncbi request reprint The population history of the Xibe in northern China: a comparison of autosomal, mtDNA and Y-chromosomal analyses of migration and gene flow
    Gareth T Powell
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
    Forensic Sci Int Genet 1:115-9. 2007
    ..In the Chinese samples examined, the combination of a northeastern autosomal background with a northwestern Y chromosome is indicative of a Xibe individual...
  43. pmc Recent spread of a Y-chromosomal lineage in northern China and Mongolia
    Yali Xue
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
    Am J Hum Genet 77:1112-6. 2005
    ..4% of the minority population by the end of the dynasty...
  44. ncbi request reprint Ancient Indian roots?
    Denise R Carvalho-Silva
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs, UK
    J Biosci 31:1-2. 2006
  45. pmc IFITM3 restricts the morbidity and mortality associated with influenza
    Aaron R Everitt
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK
    Nature 484:519-23. 2012
    ..Together these data reveal that the action of a single intrinsic immune effector, IFITM3, profoundly alters the course of influenza virus infection in mouse and humans...
  46. pmc HI: haplotype improver using paired-end short reads
    Quan Long
    The Wellcome Trust Sanger Institute, Hinxton, Cambs, UK
    Bioinformatics 25:2436-7. 2009
    ..We find that given a fixed coverage, longer reads (implying fewer of them) are preferable...
  47. ncbi request reprint Response to the comment on "The hare and the tortoise: One small step for four SNPs, one giant leap for SNP-kind"
    Yali Xue
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs CB10 1SA, UK
    Forensic Sci Int Genet 5:361-2. 2011
    ..However, changes to ethical and legal structures may be needed before the new information could be used...
  48. pmc Loss-of-function variants in the genomes of healthy humans
    Daniel G MacArthur
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
    Hum Mol Genet 19:R125-30. 2010
    ....
  49. ncbi request reprint The sequences of the human sex chromosomes
    Mark T Ross
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Curr Opin Genet Dev 16:213-8. 2006
    ..In addition, they have been useful for identifying variants associated with simple Mendelian disorders such as microphthalmia or mental retardation, and more complex disorders such as osteoporosis...
  50. pmc A comprehensive survey of human Y-chromosomal microsatellites
    Manfred Kayser
    Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
    Am J Hum Genet 74:1183-97. 2004
    ..As a result of this work, a large number of new, highly polymorphic Y-chromosomal microsatellites are now available for population-genetic, evolutionary, genealogical, and forensic investigations...
  51. ncbi request reprint Detection of novel Y SNPs provides further insights into Y chromosomal variation in Pakistan
    Aisha Mohyuddin
    Biomedical and Genetic Engineering Laboratories, G P O Box 2891, 44000, Islamabad, Pakistan
    J Hum Genet 51:375-8. 2006
    ..BATWING analysis gave an estimate of between 2,500 and 7,300 YBP for population expansion in Pakistan which coincides with the period of the Indus Valley civilizations...
  52. pmc Maternal footprints of Southeast Asians in North India
    Kumarasamy Thangaraj
    Centre for Cellular and Molecular Biology, Hyderabad, India
    Hum Hered 66:1-9. 2008
    ..The presence of R6 in the Nepalese, on the other hand, suggests that the gene flow between India and Nepal has been reciprocal...
  53. pmc Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor
    Lluis Quintana-Murci
    Centre National de la Recherche Scientifique CNRS URA 1961, Institut Pasteur, 75724 Paris Cedex 15, France
    Am J Hum Genet 74:827-45. 2004
    ....
  54. pmc Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y
    Mark A Jobling
    Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK
    Hum Mol Genet 16:307-16. 2007
    ..The persistence and expansion of deletion lineages, together with direct phenotypic evidence, suggests that absence of these genes has no major deleterious effects...
  55. ncbi request reprint Phylogeography and origin of Indian domestic goats
    Manjunath B Joshi
    Centre for Cellular and Molecular Biology, Hyderabad, India
    Mol Biol Evol 21:454-62. 2004
    ..Thus, we propose a more complex origin for domestic goats...
  56. pmc The Genographic Project public participation mitochondrial DNA database
    Doron M Behar
    PLoS Genet 3:e104. 2007
    ..We make available to the scientific community and general public two new resources: a periodically updated database comprising all data donated by participants, and the nearest neighbor haplogroup prediction tool...
  57. ncbi request reprint Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans
    Han Jun Jin
    Department of Biological Sciences, Dankook University, 330 714 Cheonan, Korea
    Hum Genet 114:27-35. 2003
    ....
  58. ncbi request reprint The human Y chromosome: an evolutionary marker comes of age
    Mark A Jobling
    Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK
    Nat Rev Genet 4:598-612. 2003
    ..Y-chromosome research is growing up...
  59. pmc The genetic legacy of the Mongols
    Tatiana Zerjal
    Department of Biochemistry, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 72:717-21. 2003
    ..The lineage is carried by likely male-line descendants of Genghis Khan, and we therefore propose that it has spread by a novel form of social selection resulting from their behavior...
  60. pmc A genetic landscape reshaped by recent events: Y-chromosomal insights into central Asia
    Tatiana Zerjal
    Department of Biochemistry, University of Oxford, Oxford, OX1 3QU, United Kingdom
    Am J Hum Genet 71:466-82. 2002
    ..Such events could account for the lack of a clear overall pattern and emphasize the importance of multiple recent events in reshaping this genetic landscape...
  61. pmc Y-chromosomal DNA variation in Pakistan
    Raheel Qamar
    Biomedical and Genetic Engineering Division, Dr A Q Khan Research Laboratories, Islamabad, Pakistan
    Am J Hum Genet 70:1107-24. 2002
    ....
  62. ncbi request reprint Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis
    Maria Brion
    Institute of Legal Medicine, University of Santiago de Compostela, San Francisco s n, 15782 Santiago de Compostela, Spain
    Gene 329:17-25. 2004
    ..Genetic drift in a small isolated population could explain this special behavior, and in addition to its anthropological interest, this finding has important forensic implications...
  63. pmc Hotspots for copy number variation in chimpanzees and humans
    George H Perry
    School of Human Evolution and Social Change, Arizona State University, Tempe, AZ 85287, USA
    Proc Natl Acad Sci U S A 103:8006-11. 2006
    ..Therefore, some of these regions may be unstable "hotspots" for the genesis of copy number variation, with recurrent duplications and deletions occurring across and within species...
  64. pmc A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa
    Barbara Arredi
    Istituto di Medicina Legale, Universita Cattolica del Sacro Cuore di Roma, Rome, Italy
    Am J Hum Genet 75:338-45. 2004
    ..Thus, we propose that the Neolithic transition in this part of the world was accompanied by demic diffusion of Afro-Asiatic-speaking pastoralists from the Middle East...
  65. pmc Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry
    Silvia Paracchini
    CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK
    Nucleic Acids Res 30:e27. 2002
    ..The technique thus provides a reliable, cost-effective and automated method for Y genotyping, and the advantages of using a hierarchical strategy can be applied to any DNA segment lacking recombination...
  66. pmc Male demography in East Asia: a north-south contrast in human population expansion times
    Yali Xue
    Wellcome Trust Sanger Institute, Hinxton, United Kingdom
    Genetics 172:2431-9. 2006
    ....
  67. pmc Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy
    Turi E King
    Department of Genetics, University of Leicester, Leicester, UK
    Eur J Hum Genet 15:288-93. 2007
    ..Our findings represent the first genetic evidence of Africans among 'indigenous' British, and emphasize the complexity of human migration history as well as the pitfalls of assigning geographical origin from Y-chromosomal haplotypes...
  68. ncbi request reprint Copy number variation: new insights in genome diversity
    Jennifer L Freeman
    Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Genome Res 16:949-61. 2006
    ..Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases...
  69. pmc The dawn of human matrilineal diversity
    Doron M Behar
    Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel
    Am J Hum Genet 82:1130-40. 2008
    ..This process was further accelerated during the recent Bantu expansions. Our results suggest that the early settlement of humans in Africa was already matrilineally structured and involved small, separately evolving isolated populations...
  70. pmc A shared Y-chromosomal heritage between Muslims and Hindus in India
    Ramana Gutala
    Department of Medicine, University of Texas Health Science Center, San Antonio, TX, USA
    Hum Genet 120:543-51. 2006
    ..The Muslim expansion in India was predominantly a cultural change and was not accompanied by significant gene flow, as seen in other places, such as China and Central Asia...
  71. pmc Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan
    Sadaf Firasat
    Biomedical and Genetic Engineering Division, Dr AQ Khan Research Laboratories, Islamabad, Pakistan
    Eur J Hum Genet 15:121-6. 2007
    ..Although based on only a few unrelated descendants, this provides strong evidence for a European origin for a small proportion of the Pathan Y chromosomes...
  72. ncbi request reprint Forensic genetic analysis of mitochondrial DNA hypervariable region I/II sequences: an expanded Korean population database
    Han Jun Jin
    Department of Biological Sciences, Dankook University, San 29, Anseo Dong, Cheonan, Choong nam 330 714, Republic of Korea
    Forensic Sci Int 158:125-30. 2006
    ....
  73. ncbi request reprint Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia
    Kyoung Don Kwak
    Department of Biological Sciences, Dankook University, Cheonan, 330 714, South Korea
    Int J Legal Med 119:195-201. 2005
    ..An admixture estimate suggested 55(51-59)% northern, 45(41-49)% southern contribution to the Koreans, illustrating the complexity of the genetic history of this region...
  74. ncbi request reprint Signature of recent historical events in the European Y-chromosomal STR haplotype distribution
    Lutz Roewer
    Institute of Legal Medicine, Humboldt University, Berlin, Germany
    Hum Genet 116:279-91. 2005
    ..We conclude that Y-STRs may be capable of resolving male genealogies to an unparalleled degree and could therefore provide a useful means to study local population structure and recent demographic history...
  75. ncbi request reprint Binary and microsatellite polymorphisms of the Y-chromosome in the Mbenzele pygmies from the Central African Republic
    Valentina Coia
    Department of Animal and Human Biology, University La Sapienza, Rome, Italy
    Am J Hum Biol 16:57-67. 2004
    ..We suggest that this could be due to the higher phylogenetic stability of Y-chromosome and to the effect of the male-biased gene flow during the Bantu expansion...