Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

[1]  Anders Albrechtsen,et al.  Greenlandic Inuit show genetic signatures of diet and climate adaptation , 2015, Science.

[2]  Tom R. Gaunt,et al.  Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel , 2015, Nature Communications.

[3]  Tom R. Gaunt,et al.  The UK10K project identifies rare variants in health and disease , 2016 .

[4]  Alan M. Kwong,et al.  Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers , 2015, Nature Genetics.

[5]  T. Spector,et al.  GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS , 2015, Nature Genetics.

[6]  Bjarni V. Halldórsson,et al.  Large-scale whole-genome sequencing of the Icelandic population , 2015, Nature Genetics.

[7]  Xiaofeng Zhu,et al.  Meta-analysis of correlated traits via summary statistics from GWASs with an application in hypertension. , 2015, American journal of human genetics.

[8]  Gil McVean,et al.  Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants , 2014, Nature Communications.

[9]  Ross M. Fraser,et al.  Defining the role of common variation in the genomic and biological architecture of adult human height , 2014, Nature Genetics.

[10]  A. Quinlan BEDTools: The Swiss‐Army Tool for Genome Feature Analysis , 2014, Current protocols in bioinformatics.

[11]  T. Zemunik,et al.  The OSR1 rs12329305 Polymorphism Contributes to the Development of Congenital Malformations in Cases of Stillborn/Neonatal Death , 2014, Medical science monitor : international medical journal of experimental and clinical research.

[12]  M. Stephens,et al.  Efficient multivariate linear mixed model algorithms for genome-wide association studies. , 2014, Nature methods.

[13]  E. Zeggini,et al.  A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates , 2013, Nature Communications.

[14]  Tanya M. Teslovich,et al.  Discovery and refinement of loci associated with lipid levels , 2013, Nature Genetics.

[15]  Michael Boehnke,et al.  Recommended Joint and Meta‐Analysis Strategies for Case‐Control Association Testing of Single Low‐Count Variants , 2013, Genetic epidemiology.

[16]  M. Gladwin,et al.  Genetic determinants of haemolysis in sickle cell anaemia , 2013, British journal of haematology.

[17]  T. Spector,et al.  HbA2 levels in normal adults are influenced by two distinct genetic mechanisms , 2013, British journal of haematology.

[18]  I. Borecki,et al.  A correlated meta-analysis strategy for data mining "OMIC" scans. , 2012, Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing.

[19]  O. Delaneau,et al.  Supplementary Information for ‘ Improved whole chromosome phasing for disease and population genetic studies ’ , 2012 .

[20]  Christian Gieger,et al.  Seventy-five genetic loci influencing the human red blood cell , 2012, Nature.

[21]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[22]  Patrick F. Sullivan,et al.  zCall: a rare variant caller for array-based genotyping: Genetics and population analysis , 2012, Bioinform..

[23]  Bronwen L. Aken,et al.  GENCODE: The reference human genome annotation for The ENCODE Project , 2012, Genome research.

[24]  Tanya M. Teslovich,et al.  Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways , 2012, Nature Genetics.

[25]  Claude Bouchard,et al.  A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance , 2012, Nature Genetics.

[26]  Stacey S. Cherny,et al.  Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets , 2011, Human Genetics.

[27]  Christian Gieger,et al.  Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk , 2011, Nature.

[28]  S. Bione,et al.  Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population , 2011, European Journal of Human Genetics.

[29]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

[30]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[31]  Tanya M. Teslovich,et al.  Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids , 2010, Nature.

[32]  Daniel Rios,et al.  Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .

[33]  Christian Gieger,et al.  New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk , 2010, Nature Genetics.

[34]  Dan-Yu Lin,et al.  Meta-analysis of genome-wide association studies with overlapping subjects. , 2009, American journal of human genetics.

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

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

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

[38]  Yusuke Nakamura,et al.  A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E , 2009, Human Genetics.

[39]  J. O’Connell,et al.  A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection , 2008, Science.

[40]  Gonçalo R. Abecasis,et al.  Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia , 2008, Proceedings of the National Academy of Sciences.

[41]  S. Morrison,et al.  Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice , 2007, Proceedings of the National Academy of Sciences.

[42]  T. Takenawa,et al.  Core Protein Machinery for Mammalian Phosphatidylinositol 3,5-Bisphosphate Synthesis and Turnover That Regulates the Progression of Endosomal Transport , 2007, Journal of Biological Chemistry.

[43]  R. Durbin,et al.  The Sequence Ontology: a tool for the unification of genome annotations , 2005, Genome Biology.

[44]  J. Straková,et al.  A Mammalian Ortholog of Saccharomyces cerevisiae Vac14 That Associates with and Up-Regulates PIKfyve Phosphoinositide 5-Kinase Activity , 2004, Molecular and Cellular Biology.

[45]  G. Lyons,et al.  Mammalian DSCAMs: roles in the development of the spinal cord, cortex, and cerebellum? , 2002, Biochemical and biophysical research communications.

[46]  K. Yamakawa,et al.  Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion. , 2001, Biochemical and biophysical research communications.

[47]  P. G. N. Digby,et al.  Approximating the Tetrachoric Correlation Coefficient , 1983 .