Genomes and Genes
M E Weale
Affiliation: University College London
- Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national groupM E Weale
Centre for Genetic Anthropology, Departments of Biology and Anthropology, University College London, University of London, Darwin Bdg, Gower St, London WC1E 6BT, UK
Hum Genet 109:659-74. 2001....
- Y chromosome evidence for Anglo-Saxon mass migrationMichael E Weale
The Centre for Genetic Anthropology, Departments of Biology and Anthropology, University College London, University of London, United Kingdom
Mol Biol Evol 19:1008-21. 2002....
- A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?Catherine J E Ingram
Department of Biology, Galton Laboratory, University College London, Wolfson House, 4 Stephenson Way, London, UK
Hum Genet 120:779-88. 2007..This study reveals the complexity of this phenotypic polymorphism and highlights the limitations of C-13910T as a diagnostic test for lactase persistence status, at least for people with non-European ancestry...
- Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance geneNicole Soranzo
Department of Biology, University College London, London WC1E 6BT, United Kingdom
Genome Res 14:1333-44. 2004..Finally, we describe a set of six haplotype tagging single-nucleotide polymorphisms that represent common ABCB1 variation surrounding 3435C>T in Europeans...
- Population genetic structure of variable drug responseJ F Wilson
Galton Laboratory, Department of Biology, University College London, London, UK
Nat Genet 29:265-9. 2001..Our comparison of drug-metabolizing profiles across the inferred clusters establishes a framework for assessing the appropriate level of resolution in relating genetic structure to drug response...
- The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in AfricansCharlotte A Mulcare
The Centre for Genetic Anthropology TCGA, University College London, London NW1 2HE, United Kingdom
Am J Hum Genet 74:1102-10. 2004..We also present Y-chromosome data that are consistent with previously reported evidence for a back-migration event into Cameroon, and we comment on the implications for the introgression of the -13.9kb*T allele...
- Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestorsMark G Thomas
Departments of Biology and Anthropology, The Centre for Genetic Anthropology, University College London, Gower Street, London WC1E 6BT, UK
Am J Hum Genet 70:1411-20. 2002....
- Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsyR De Silva
Reta Lila Weston Institute of Neurological Studies, University College London, Windeyer Building, 46 Cleveland Street, London, W1T 4JF, UK
Neurology 61:407-9. 2003....
- Population genomics: linkage disequilibrium holds the keyD B Goldstein
Galton Lab, Department of Biology, University College London, 4 Stephenson Way, NW1 2HE, London, UK
Curr Biol 11:R576-9. 2001..Recent work has shown that linkage disequilibrium can extend over much larger genomic regions than expected, and that the patterns of linkage disequilibrium can differ markedly among populations...
- Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutationSanjay M Sisodiya
Department of Clinical and Experimental Epilepsy, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
J Med Genet 44:373-80. 2007..RIMS1 encodes a synapse active-zone protein with important roles in the maintenance of normal synaptic function: mice lacking this protein have greatly reduced learning ability and memory function...
- The potentially deleterious functional variant flavin-containing monooxygenase 2*1 is at high frequency throughout sub-Saharan AfricaKrishna R Veeramah
The Centre for Genetic Anthropology, Research Department of Genetics, University College, London, UK
Pharmacogenet Genomics 18:877-86. 2008..This study demonstrates the value of performing genetic surveys in Africa, a continent in which human genetic diversity is thought to be greatest, but where studies of the distribution of this diversity are few...
- New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle EastMark G Thomas
Department of Biology, University College London, London NW1 2HE, UK
Eur J Hum Genet 16:124-34. 2008....
- Positive selection on a high-sensitivity allele of the human bitter-taste receptor TAS2R16Nicole Soranzo
Department of Biology, University College London, United Kingdom
Curr Biol 15:1257-65. 2005..The G protein-coupled receptor encoded by TAS2R16 mediates response to salicin, amygdalin, and many bitter beta-glucopyranosides. beta-glucopyranosides are ubiquitous in nature, with many having a highly toxic cyanogenic activity...
- Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic groupCatherine J E Ingram
Research Department of Genetics, Evolution and Environment, University College London, Wolfson House, 4 Stephenson Way, London, NW1 2HE, UK
J Mol Evol 69:579-88. 2009..This contrasts with the well-documented observation that positive selection decreases diversity by driving up the frequency of a single advantageous allele, and has implications for association studies...
- Genetic intra-tumour heterogeneity in epithelial ovarian cancer and its implications for molecular diagnosis of tumoursL Khalique
Translational Research Laboratory, Department of Gynaecological Oncology, Institute for Women s Health, University College London, UK
J Pathol 211:286-95. 2007..The basis of genetic ITH and the possible implications for molecular approaches to clinical diagnosis of ovarian cancers may apply to other tumour types...
- No major role of common SV2A variation for predisposition or levetiracetam response in epilepsyJ M Lynch
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
Epilepsy Res 83:44-51. 2009..However, different study designs would be needed to examine common variation with minor effect sizes, or rare variation, influencing AED or LEV response or epilepsy predisposition...
- High-throughput analysis of informative CYP2D6 compound haplotypesBenjamin Fletcher
The Centre for Genetic Anthropology, Department of Biology and Department of Anthropology, University College London, UK
Genomics 81:166-74. 2003..1 using microsatellite variation, and (3) generation of compound haplotypes for investigating the evolution of CYP2D6 variation. We also report compound haplotype frequencies for an Ashkenazi Jewish and a British sample...
- Long-range LD can confound genome scans in admixed populationsAlkes L Price
Am J Hum Genet 83:132-5; author reply 135-9. 2008
- An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseasesColm T O'Dushlaine
Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Ireland
Eur J Hum Genet 16:176-83. 2008..This analysis therefore confirms that the genetic architecture of the Irish population is well suited to the study of complex traits and that tSNPs selected using the HapMap data can be confidently applied to the Irish population...
- Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyGianpiero L Cavalleri
Department of Clinical Neurological Sciences and Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland Research Institute, and Division of Neurology, Beaumont Hospital, Dublin, Ireland
Lancet Neurol 6:970-80. 2007..The Epilepsy Genetics (EPIGEN) Consortium was established to undertake genetic mapping analyses with augmented statistical power to detect variants that influence the development and treatment of common forms of epilepsy...
- Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1Asra Siddiqui
Department of Molecular Pathogenesis, Institute of Neurology, London, UK
N Engl J Med 348:1442-8. 2003..We hypothesized that the CC genotype at the ABCB1 C3435T polymorphism, which is associated with increased expression of the protein, influences the response to antiepileptic-drug treatment...
- Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestriesDoron M Behar
Bruce Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel
Am J Hum Genet 73:768-79. 2003....
- A survey of current software for haplotype phase inferenceMichael E Weale
Bloomsbury Analytical Services, 28 30 Little Russell Street, London WC1A 2HN, UK
Hum Genomics 1:141-4. 2004..For completeness, the review will occasionally refer to algorithms for which no software exists...
- Evolution of a length polymorphism in the human PER3 gene, a component of the circadian systemNachiket A Nadkarni
Department of Biology University College London, UK
J Biol Rhythms 20:490-9. 2005..We therefore find no evidence for differential or balancing selection in the contemporary pattern of global PER3allele frequencies...