Research Topics
Genomes and Genes
Species | Yali XueSummaryAffiliation: Wellcome Trust Genome Campus Country: UK Publications
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Detail Information
Publications
Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencingJohanna 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:..
The functional spectrum of low-frequency coding variationGabor T Marth
Department of Biology, Boston College, 140 Commonwealth Avenue, Chestnut Hill, MA 02467, USA
Genome Biol 12:R84. 2011....
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigreeYali 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...
Population differentiation as an indicator of recent positive selection in humans: an empirical evaluationYali Xue
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, United Kingdom
Genetics 183:1065-77. 2009....
Genetic basis of y-linked hearing impairmentQiuju Wang
Department of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK
Am J Hum Genet 92:301-6. 2013..We suggest that a third copy of one or more genes from the shared segment of chromosome 1 might be responsible for the hearing-loss phenotype...
A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populationsWentao 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...
A map of human genome variation from population-scale sequencingRichard 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...
FOXP2 Targets Show Evidence of Positive Selection in European PopulationsQasim 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....
Geographical affinities of the HapMap samplesMiao 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?..
Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing dataMin Hu
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK
Hum Genet 131:665-74. 2012....
Insights into hominid evolution from the gorilla genome sequenceAylwyn 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...
The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kindYali 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...
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencingYali Xue
The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
Am J Hum Genet 91:1022-32. 2012....
A calibrated human Y-chromosomal phylogeny based on resequencingWei 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...
A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPsBryndis 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...
Adaptive evolution of UGT2B17 copy-number variationYali 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...
A world in a grain of sand: human history from genetic dataVincenza 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...
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPatrick 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...
High altitude adaptation in Daghestani populations from the CaucasusLuca 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...
The population history of the Xibe in northern China: a comparison of autosomal, mtDNA and Y-chromosomal analyses of migration and gene flowGareth 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...
Variation in genome-wide mutation rates within and between human familiesDonald 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...
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortiumNicole Soranzo
Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK
Nat Genet 41:1182-90. 2009....
Variation of 52 new Y-STR loci in the Y Chromosome Consortium worldwide panel of 76 diverse individualsSi 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...
The variant call format and VCFtoolsPetr 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. AVAILABILITY: http://vcftools.sourceforge.net..
Genome-wide meta-analysis of common variant differences between men and womenVesna Boraska
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
Hum Mol Genet 21:4805-15. 2012..The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits...
A systematic survey of loss-of-function variants in human protein-coding genesDaniel 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...
Variation of the oxytocin/neurophysin I (OXT) gene in four human populationsYang Xu
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs, CB10 1SA, UK
J Hum Genet 53:637-43. 2008....
Spread of an inactive form of caspase-12 in humans is due to recent positive selectionYali 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...
Recent spread of a Y-chromosomal lineage in northern China and MongoliaYali 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...
Sibling rivalry among paralogs promotes evolution of the human brainChris 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...
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...
