Tyler-Smith Group | Human evolution

Tyler-Smith Group | Human evolution

Tyler-Smith Group

Tyler-Smith GroupSanger Institute, Genome Research Limited
Tyler-Smith Group

Our Research and Approach

We study variation in the DNA of people from different parts of the world, and also in related species such as chimpanzees and gorillas. This tells us about the evolutionary history of human populations and also allows us to compare the different species.

Humans originated in Africa, yet our understanding of African genetic variation is limited, and so this forms one focus of our current work. We also investigate how our ancestors expanded out of Africa into the Middle East and as far as Australia around 50,000 years ago, and how we adapted to the diverse environments including high altitudes in the Himalayas. We explore the insights that natural variation can provide into gene function, and model a few of the advantageous adaptations in mice or cell lines in order to understand the functional changes that were beneficial.

People

Tyler-Smith, Chris
Dr Chris Tyler-Smith
Group Leader

Chris Tyler-Smith studies genetic variation in humans and other apes in order to understand their evolutionary history and adaptations.


 

Partners and Funders

Internal Partners
External Partners and Funders

Publications

  • A global reference for human genetic variation.

    1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP et al.

    Nature 2015;526;7571;68-74

  • Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians.

    Pagani L, Schiffels S, Gurdasani D, Danecek P, Scally A et al.

    American journal of human genetics 2015;96;6;986-91

  • Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding.

    Xue Y, Prado-Martinez J, Sudmant PH, Narasimhan V, Ayub Q et al.

    Science (New York, N.Y.) 2015;348;6231;242-5

  • The African Genome Variation Project shapes medical genetics in Africa.

    Gurdasani D, Carstensen T, Tekola-Ayele F, Pagani L, Tachmazidou I et al.

    Nature 2015;517;7534;327-32

  • Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.

    Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P et al.

    Genome biology 2014;15;6;R88

  • Integrative annotation of variants from 1092 humans: application to cancer genomics.

    Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM et al.

    Science (New York, N.Y.) 2013;342;6154;1235587

  • Genetic basis of Y-linked hearing impairment.

    Wang Q, Xue Y, Zhang Y, Long Q, Asan et al.

    American journal of human genetics 2013;92;2;301-6

  • A calibrated human Y-chromosomal phylogeny based on resequencing.

    Wei W, Ayub Q, Chen Y, McCarthy S, Hou Y et al.

    Genome research 2013;23;2;388-95

  • Insights into hominid evolution from the gorilla genome sequence.

    Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I et al.

    Nature 2012;483;7388;169-75

  • A systematic survey of loss-of-function variants in human protein-coding genes.

    MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J et al.

    Science (New York, N.Y.) 2012;335;6070;823-8

  • Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.

    Xue Y, Wang Q, Long Q, Ng BL, Swerdlow H et al.

    Current biology : CB 2009;19;17;1453-7

  • Global variation in copy number in the human genome.

    Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH et al.

    Nature 2006;444;7118;444-54

  • The Connection of the Genetic, Cultural and Geographic Landscapes of Transoxiana.

    Zhabagin M, Balanovska E, Sabitov Z, Kuznetsova M, Agdzhoyan A et al.

    Scientific reports 2017;7;1;3085

  • Human Y-chromosome variation in the genome-sequencing era.

    Jobling MA and Tyler-Smith C

    Nature reviews. Genetics 2017

  • Y-chromosomal sequences of diverse Indian populations and the ancestry of the Andamanese.

    Mondal M, Bergström A, Xue Y, Calafell F, Laayouni H et al.

    Human genetics 2017

  • Aboriginal Australian mitochondrial genome variation - an increased understanding of population antiquity and diversity.

    Nagle N, van Oven M, Wilcox S, van Holst Pellekaan S, Tyler-Smith C et al.

    Scientific reports 2017;7;43041

  • Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration.

    Balanovsky O, Gurianov V, Zaporozhchenko V, Balaganskaya O, Urasin V et al.

    BMC evolutionary biology 2017;17;Suppl 1;18

  • Mapping Post-Glacial expansions: The Peopling of Southwest Asia.

    Platt DE, Haber M, Dagher-Kharrat MB, Douaihy B, Khazen G et al.

    Scientific reports 2017;7;40338

  • An Ethnolinguistic and Genetic Perspective on the Origins of the Dravidian-Speaking Brahui in Pakistan.

    Pagani L, Colonna V, Tyler-Smith C and Ayub Q

    Man in India 2017;97;1;267-278

  • Chimpanzee genomic diversity reveals ancient admixture with bonobos.

    de Manuel M, Kuhlwilm M, Frandsen P, Sousa VC, Desai T et al.

    Science (New York, N.Y.) 2016;354;6311;477-481

  • A genomic history of Aboriginal Australia.

    Malaspinas AS, Westaway MC, Muller C, Sousa VC, Lao O et al.

    Nature 2016

  • The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.

    Mallick S, Li H, Lipson M, Mathieson I, Gymrek M et al.

    Nature 2016

  • Genomic analyses inform on migration events during the peopling of Eurasia.

    Pagani L, Lawson DJ, Jagoda E, Mörseburg A, Eriksson A et al.

    Nature 2016

  • Natural selection at rare variants

    XUE,Y. and TYLER-SMITH,C.

    Assessing Rare Variation in Complex Traits: Design and Analysis of Genetic Studies 2016;123-33

  • BCFtools/RoH: a hidden Markov m b13 odel approach for detecting autozygosity from next-generation sequencing data.

    Narasimhan V, Danecek P, Scally, Xue Y, Tyler-Smith C and Durbin R

    Bioinformatics (Oxford, England) 2016;32;11;1749-51

  • Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations.

    Haber M, Mezzavilla M, Xue Y, Comas D, Gasparini P et al.

    European journal of human genetics : EJHG 2016;24;6;931-6

  • Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.

    Poznik GD, Xue Y, Mendez FL, Willems TF, Massaia A et al.

    Nature genetics 2016;48;6;593-9

  • Health and population effects of rare gene knockouts in adult humans with related parents.

    Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ et al.

    Science (New York, N.Y.) 2016;352;6284;474-7

  • Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates.

    Willems T, Gymrek M, Poznik GD, Tyler-Smith C, 1000 Genomes Project Chromosome Y Group and Erlich Y

    American journal of human genetics 2016

  • Great ape Y Chromosome and mitochondrial DNA phylogenies reflect subspecies structure and patterns of mating and dispersal.

    Hallast P, Maisano Delser P, Batini C, Zadik D, Rocchi M et al.

    Genome research 2016;26;4;427-39

  • Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?

    Narasimhan VM, Xue Y and Tyler-Smith C

    Trends in molecular medicine 2016;22;4;341-51

  • Wide distribution and altitude correlation of an archaic high-altitude-adaptive EPAS1 haplotype in the Himalayas.

    Hackinger S, Kraaijenbrink T, Xue Y, Mezzavilla M, Asan et al.

    Human genetics 2016;135;4;393-402

  • New native South American Y chromosome lineages.

    Jota MS, Lacerda DR, Sandoval JR, Vieira PP, Ohasi D et al.

    Journal of human genetics 2016

  • Deep Roots for Aboriginal Australian Y Chromosomes.

    Bergström A, Nagle N, Chen Y, McCarthy S, Pollard MO et al.

    Current biology : CB 2016;26;6;809-13

  • The Genetic History of Peruvian Quechua-Lamistas and Chankas: Uniparental DNA Patterns among Autochthonous Amazonian and Andean Populations.

    Sandoval JR, Lacerda DR, Acosta O, Jota MS, Robles-Ruiz P et al.

    Annals of human genetics 2016;80;2;88-101

  • Antiquity and diversity of aboriginal Australian Y-chromosomes.

    Nagle N, Ballantyne KN, van Oven M, Tyler-Smith C, Xue Y et al.

    American journal of physical anthropology 2016;159;3;367-81

  • Iron Age and Anglo-Saxon genomes from East England reveal British migration history.

    Schiffels S, Haak W, Paajanen P, Llamas B, Popescu E et al.

    Nature communications 2016;7;10408

  • Ancient DNA and the rewriting of human history: be sparing with Occam's razor.

    Haber M, Mezzavilla M, Xue Y and Tyler-Smith C

    Genome biology 2016;17;1

  • The pig X and Y Chromosomes: structure, sequence, and evolution.

    Skinner BM, Sargent CA, Churcher C, Hunt T, Herrero J et al.

    Genome research 2016;26;1;130-9

  • An extended Tajima's D neutrality test incorporating SNP calling and imputation uncertainties.

    Zhang Q, Tyler-Smith C and Long Q

    Statistics and its interface 2015;8;4;447-456

  • A global reference for human genetic variation.

    1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP et al.

    Nature 2015;526;7571;68-74

  • Global diversity, population stratification, and selection of human copy-number variation.

    Sudmant PH, Mallick S, Nelson BJ, Hormozdiari F, Krumm N et al.

    Science (New York, N.Y.) 2015;349;6253;aab3761

  • POPULATION GENETICS. Genomic evidence for the Pleistocene and recent population history of Native Americans.

    Raghavan M, Steinrücken M, Harris K, Schiffels S, Rasmussen S et al.

    Science (New York, N.Y.) 2015;349;6250;aab3884

  • Evidence for a Common Origin of Blacksmiths and Cultivators in the Ethiopian Ari within the Last 4500 Years: Lessons for Clustering-Based Inference.

    van Dorp L, Balding D, Myers S, Pagani L, Tyler-Smith C et al.

    PLoS genetics 2015;11;8;e1005397

  • Copy number variation in the human Y chromosome in the UK population.

    Wei W, Fitzgerald TW, Fitzgerald T, Ayub Q, Massaia A et al.

    Human genetics 2015;134;7;789-800

  • Where Next for Genetics and Genomics?

    Tyler-Smith C, Yang H, Landweber LF, Dunham I, Knoppers BM et al.

    PLoS biology 2015;13;7;e1002216

  • Expansion of the HSFY gene family in pig lineages : HSFY expansion in suids.

    Skinner BM, Lachani K, Sargent CA, Yang F, Ellis P et al.

    BMC genomics 2015;16;442

  • Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians.

    Pagani L, Schiffels S, Gurdasani D, Danecek P, Scally A et al.

    American journal of human genetics 2015;96;6;986-91

  • Structural variation on the human Y chromosome from population-scale resequencing.

    Espinosa JR, Ayub Q, Chen Y, Xue Y and Tyler-Smith C

    Croatian medical journal 2015;56;3;194-207

  • Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding.

    Xue Y, Prado-Martinez J, Sudmant PH, Narasimhan V, Ayub Q et al.

    Science (New York, N.Y.) 2015;348;6231;242-5

  • A recent bottleneck of Y chromosome diversity coincides with a global change in culture.

    Karmin M, Saag L, Vicente M, Wilson Sayres MA, Järve M et al.

    Genome research 2015;25;4;459-66

  • Identification of new SNPs in native South American populations by resequencing the Y chromosome.

    Geppert M, Ayub Q, Xue Y, Santos S, Ribeiro-dos-Santos et al.

    Forensic science international. Genetics 2015;15;111-4

  • The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

    Hallast P, Batini C, Zadik D, Maisano Delser P, Wetton JH et al.

    Molecular biology and evolution 2015;32;3;661-73

  • Insights into the origin of rare haplogroup C3* Y chromosomes in South America from high-density autosomal SNP genotyping.

    Mezzavilla M, Geppert M, Tyler-Smith C, Roewer L and Xue Y

    Forensic science international. Genetics 2015;15;115-20

  • The African Genome Variation Project shapes medical genetics in Africa.

    Gurdasani D, Carstensen T, Tekola-Ayele F, Pagani L, Tachmazidou I et al.

    Nature 2015;517;7534;327-32

  • Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians.

    Arciero E, Biagini SA, Chen Y, Xue Y, Luiselli D et al.

    PloS one 2015;10;12;e0146072

  • Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.

    Panoutsopoulou K, Hatzikotoulas K, Xifara DK, Colonna V, Farmaki AE et al.

    Nature communications 2014;5;5345

  • Human genetics: pre-Columbian Pacific contact.

    Tyler-Smith C

    Current biology : CB 2014;24;21;R1038-40

  • A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations.

    Clemente FJ, Cardona A, Inchley CE, Peter BM, Jacobs G et al.

    American journal of human genetics 2014;95;5;584-589

  • Using ancestry-informative markers to identify fine structure across 15 populations of European origin.

    Huckins LM, Boraska V, Franklin CS, Floyd JA, Southam L et al.

    European journal of human genetics : EJHG 2014;22;10;1190-200

  • A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.

    Purps J, Siegert S, Willuweit S, Nagy M, Alves C et al.

    Forensic science international. Genetics 2014;12;12-23

  • Toward male individualization with rapidly mutating y-chromosomal short tandem repeats.

    Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ et al.

    Human mutation 2014;35;8;1021-32

  • Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.

    Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P et al.

    Genome biology 2014;15;6;R88

  • Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer.

    Nik-Zainal S, Wedge DC, Alexandrov LB, Petljak M, Butler AP et al.

    Nature genetics 2014;46;5;487-91

  • Gene conversion violates the stepwise mutation model for microsatellites in y-chromosomal palindromic repeats.

    Balaresque P, King TE, Parkin EJ, Heyer E, Carvalho-Silva D et al.

    Human mutation 2014;35;5;609-17

  • Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes.

    Ayub Q, Moutsianas L, Chen Y, Panoutsopoulou K, Colonna V et al.

    American journal of human genetics 2014;94;2;176-85

  • A comparison of Y-chromosomal lineage dating using either resequencing or Y-SNP plus Y-STR genotyping.

    Wei W, Ayub Q, Xue Y and Tyler-Smith C

    Forensic science international. Genetics 2013;7;6;568-72

  • Integrative annotation of variants from 1092 humans: application to cancer genomics.

    Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM et al.

    Science (New York, N.Y.) 2013;342;6154;1235587

  • FOXP2 targets show evidence of positive selection in European populations.

    Ayub Q, Yngvadottir B, Chen Y, Xue Y, Hu M et al.

    American journal of human genetics 2013;92;5;696-706

  • Genetic basis of Y-linked hearing impairment.

    Wang Q, Xue Y, Zhang Y, Long Q, Asan et al.

    American journal of human genetics 2013;92;2;301-6

  • A calibrated human Y-chromosomal phylogeny based on resequencing.

    Wei W, Ayub Q, Chen Y, McCarthy S, Hou Y et al.

    Genome research 2013;23;2;388-95

  • A genome-wide survey of genetic variation in gorillas using reduced representation sequencing.

    Scally A, Yngvadottir B, Xue Y, Ayub Q, Durbin R and Tyler-Smith C

    PloS one 2013;8;6;e65066

  • A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

    Tachmazidou I, Dedoussis G, Southam L, Farmaki AE, Ritchie GR et al.

    Nature communications 2013;4;2872

  • Genome-wide diversity in the levant reveals recent structuring by culture.

    Haber M, Gauguier D, Youhanna S, Patterson N, Moorjani P et al.

    PLoS genetics 2013;9;2;e1003316

  • Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.

    Xue Y, Chen Y, Ayub Q, Huang N, Ball EV et al.

    American journal of human genetics 2012;91;6;1022-32

  • An integrated map of genetic variation from 1,092 human genomes.

    1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA et al.

    Nature 2012;491;7422;56-65

  • Impact of restricted marital practices on genetic variation in an endogamous Gujarati group.

    Pemberton TJ, Li FY, Hanson EK, Mehta NU, Choi S et al.

    American journal of physical anthropology 2012;149;1;92-103

  • Ethiopian genetic diversity reveals linguistic stratification and complex influences on the Ethiopian gene pool.

    Pagani L, Tarekegn A, Ekong R, Plaster C, Gallego Romero I et al.

    American journal of human genetics 2012;91;1;83-96

  • Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon.

    Haber M, Platt DE, Badro DA, Xue Y, El-Sibai M et al.

    European journal of human genetics : EJHG 2011;19;3;334-40

  • Population genetic structure in Indian Austroasiatic speakers: the role of landscape barriers and sex-specific admixture.

    Chaubey G, Metspalu M, Choi Y, Mägi R, Romero IG et al.

    Molecular biology and evolution 2011;28;2;1013-24

  • Gene inactivation and its implications for annotation in the era of personal genomics.

    Balasubramanian S, Habegger L, Frankish A, MacArthur DG, Harte R et al.

    Genes & development 2011;25;1;1-10

  • A map of human genome variation from population-scale sequencing.

    1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD et al.

    Nature 2010;467;7319;1061-73

  • Loss-of-function variants in the genomes of healthy humans.

    MacArthur DG and Tyler-Smith C

    Human molecular genetics 2010;19;R2;R125-30

  • Distinct variants at LIN28B influence growth in height from birth to adulthood.

    Widén E, Ripatti S, Cousminer DL, Surakka I, Lappalainen T et al.

    American journal of human genetics 2010;86;5;773-82

  • Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.

    Park H, Kim JI, Ju YS, Gokcumen O, Mills RE et al.

    Nature genetics 2010;42;5;400-5

  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

    Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD et al.

    Nature 2010;464;7289;713-20

  • Origins and functional impact of copy number variation in the human genome.

    Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O et al.

    Nature 2010;464;7289;704-12

  • Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations.

    Eaaswarkhanth M, Haque I, Ravesh Z, Romero IG, Meganathan PR et al.

    European journal of human genetics : EJHG 2010;18;3;354-63

  • The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kind.

    Xue Y and Tyler-Smith C

    Forensic science international. Genetics 2010;4;2;59-61

  • A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations.

    Shi W, Ayub Q, Vermeulen M, Shao RG, Zuniga S et al.

    Molecular biology and evolution 2010;27;2;385-93

  • A predominantly neolithic origin for European paternal lineages.

    Balaresque P, Bowden GR, Adams SM, Leung HY, King TE et al.

    PLoS biology 2010;8;1;e1000285

  • A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

    Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A et al.

    Nature genetics 2009;41;11;1182-90

  • Genetic structure of nomadic Bedouin from Kuwait.

    Mohammad T, Xue Y, Evison M and Tyler-Smith C

    Heredity 2009;103;5;425-33

  • Geographical structure of the Y-chromosomal genetic landscape of the Levant: a coastal-inland contrast.

    El-Sibai M, Platt DE, Haber M, Xue Y, Youhanna SC et al.

    Annals of human genetics 2009;73;Pt 6;568-81

  • Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.

    Xue Y, Zhang X, Huang N, Daly A, Gillson CJ et al.

    Genetics 2009;183;3;1065-77

  • TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages.

    Giachini C, Nuti F, Turner DJ, Laface I, Xue Y et al.

    The Journal of clinical endocrinology and metabolism 2009;94;10;4016-22

  • HI: haplotype improver using paired-end short reads.

    Long Q, MacArthur D, Ning Z and Tyler-Smith C

    Bioinformatics (Oxford, England) 2009;25;18;2436-7

  • Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.

    Xue Y, Wang Q, Long Q, Ng BL, Swerdlow H et al.

    Current biology : CB 2009;19;17;1453-7

  • Genetic variation in South Asia: assessing the influences of geography, language and ethnicity for understanding history and disease risk.

    Ayub Q and Tyler-Smith C

    Briefings in functional genomics & proteomics 2009;8;5;395-404

  • Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms.

    Vermeulen M, Wollstein A, van der Gaag K, Lao O, Xue Y et al.

    Forensic science international. Genetics 2009;3;4;205-13

  • A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

    Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S et al.

    Nature genetics 2009;41;5;535-43

  • The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene.

    Tyler-Smith C and Krausz C

    The New England journal of medicine 2009;360;9;925-7

  • A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.

    Dhandapany PS, Sadayappan S, Xue Y, Powell GT, Rani DS et al.

    Nature genetics 2009;41;2;187-91

  • A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.

    Yngvadottir B, Xue Y, Searle S, Hunt S, Delgado M et al.

    American journal of human genetics 2009;84;2;224-34

  • A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.

    Behar DM, Blue-Smith J, Soria-Hernanz DF, Tzur S, Hadid Y et al.

    Human mutation 2008;29;12;1387-91

  • Copy number variation and evolution in humans and chimpanzees.

    Perry GH, Yang F, Marques-Bonet T, Murphy C, Fitzgerald T et al.

    Genome research 2008;18;11;1698-710

  • Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean.

    Zalloua PA, Platt DE, El Sibai M, Khalife J, Makhoul N et al.

    American journal of human genetics 2008;83;5;633-42

  • Maximum-likelihood estimation of site-specific mutation rates in human mitochondrial DNA from partial phylogenetic classification.

    Rosset S, Wells RS, Soria-Hernanz DF, Tyler-Smith C, Royyuru AK et al.

    Genetics 2008;180;3;1511-24

  • Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis.

    Balaresque P, Bowden GR, Parkin EJ, Omran GA, Heyer E et al.

    Human mutation 2008;29;10;1171-80

  • Adaptive evolution of UGT2B17 copy-number variation.

    Xue Y, Sun D, Daly A, Yang F, Zhou X et al.

    American journal of human genetics 2008;83;3;337-46

  • An evolutionary perspective on Y-chromosomal variation and male infertility.

    Tyler-Smith C

    International journal of andrology 2008;31;4;376-82

  • Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping.

    Turner DJ, Tyler-Smith C and Hurles ME

    Nucleic acids research 2008;36;13;e82

  • The dawn of human matrilineal diversity.

    Behar DM, Villems R, Soodyall H, Blue-Smith J, Pereira L et al.

    American journal of human genetics 2008;82;5;1130-40

  • The functional impact of structural variation in humans.

    Hurles ME, Dermitzakis ET and Tyler-Smith C

    Trends in genetics : TIG 2008;24;5;238-45

  • Y-chromosomal diversity in Lebanon is structured by recent historical events.

    Zalloua PA, Xue Y, Khalife J, Makhoul N, Debiane L et al.

    American journal of human genetics 2008;82;4;873-82

  • Relative impact of nucleotide and copy number variation on gene expression phenotypes.

    Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C et al.

    Science (New York, N.Y.) 2007;315;5813;848-53

  • Global variation in copy number in the human genome.

    Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH et al.

    Nature 2006;444;7118;444-54

  • A shared Y-chromosomal heritage between Muslims and Hindus in India.

    Gutala R, Carvalho-Silva DR, Jin L, Yngvadottir B, Avadhanula V et al.

    Human genetics 2006;120;4;543-51

  • Assaying chromosomal inversions by single-molecule haplotyping.

    Turner DJ, Shendure J, Porreca G, Church G, Green P et al.

    Nature methods 2006;3;6;439-45

  • Male demography in East Asia: a north-south contrast in human population expansion times.

    Xue Y, Zerjal T, Bao W, Zhu S, Shu Q et al.

    Genetics 2006;172;4;2431-9

  • Spread of an inactive form of caspase-12 in humans is due to recent positive selection.

    Xue Y, Daly A, Yngvadottir B, Liu M, Coop G et al.

    American journal of human genetics 2006;78;4;659-70

  • The rise and fall of the ape Y chromosome?

    Tyler-Smith C, Howe K and Santos FR

    Nature genetics 2006;38;2;141-3

  • Y-chromosomal rearrangements and azoospermia

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