Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.

Scott M. Williams | Yu-Han H. Hsu | Nicholette D. Palmer | Yan V. Sun | Krista A. Zanetti | Sun J. Kang | Cameron D. Palmer | C. Carlson | J. Witte | E. Demerath | M. Fornage | D. Hernandez | M. Nalls | A. Singleton | J. Manson | A. Reiner | S. Redline | H. Hakonarson | S. Grant | C. Rotimi | A. Adeyemo | J. Hirschhorn | M. Thun | A. Olshan | J. Carpten | E. Gillanders | H. Leonard | E. Schadt | I. Borecki | S. Chanock | M. Spitz | O. Olopade | J. Palmer | Y. Meng | C. Kooperberg | A. Zonderman | M. Evans | C. Fox | S. Kardia | A. Levin | L. Kuller | K. Lohman | B. Psaty | D. Siscovick | R. Kittles | B. Henderson | C. Haiman | J. Stanford | S. Ingles | E. John | L. Kolonel | P. Goodman | B. Howard | Xifeng Wu | C. Harris | C. Amos | R. Cooper | D. Conti | L. Le Marchand | K. Monroe | Zhaoming Wang | R. Ziegler | M. Tucker | Yun Li | G. Lettre | E. Speliotes | J. Rotter | Latchezar Dimitrov | J. Bradfield | Wei-Min Chen | T. Harris | J. Jordan | B. Cade | W. Zheng | J. Brody | W. Maixner | L. Signorello | W. Blot | D. Rao | C. Langefeld | D. Becker | S. Berndt | L. Bielak | P. Peyser | G. Papanicolaou | Xiaofeng Zhu | S. Ambs | K. Nathanson | L. Cupples | G. Casey | M. Wojczynski | B. Nemesure | Xiuqing Guo | L. Bernstein | E. Klein | C. Schurmann | Q. Cai | W. R. Diver | K. North | James G. Wilson | O. Gottesman | E. Bottinger | Jennifer A. Smith | Wei Zhao | J. Faul | M. Garcia | D. Weir | D. Arnett | D. J. Van Den Berg | B. Zemel | T. Mosley | M. Feitosa | T. Bartz | S. Tajuddin | B. Tayo | E. Ware | L. Yanek | U. Broeckel | G. Burke | Jingzhong Ding | Q. Duan | N. Palmer | P. Schreiner | D. Bowden | B. Freedman | C. Huff | M. Neuhouser | A. Ogunniyi | R. Loos | S. Vedantam | Ching‐Ti Liu | J. Zhao | M. Aldrich | T. Haritunians | V. Stevens | K. Monda | B. McKnight | L. Atwood | A. Chesi | M. Cushman | Simin Liu | A. Justice | Vaneet Lotay | Yingchang Lu | E. Marouli | M. Graff | R. Fine | K. Young | M. Ng | Poorva Mudgal | M. Allison | L. Lange | Jin Li | A. Hennis | D. Huo | C. Chiang | Youfang Liu | S. Deming | T. Ogundiran | D. Shriner | A. N’Diaye | S. Strom | M. Wrensch | M. Press | J. Wiencke | C. Ambrosone | L. Williams | S. Rhie | A. Kutlar | K. Johnson | M. Vitolins | J. Zmuda | S. Wassertheil-Smoller | E. Kabagambe | A. Schwartz | L. McNeill | M. Irvin | L. Sucheston | B. Keating | B. Salako | D. Zhi | Guanjie Chen | E. Bandera | N. Caporaso | A. Murphy | C. Neslund-Dudas | S. Nyante | J. Rodriguez-Gil | B. Rybicki | K. Zanetti | K. Taylor | T. Howard | S. Kolb | R. Nadukuru | U. Nayak | H. Ochs-Balcom | O. Ojengbede | E. Ruiz-Narváez | L. Rasmussen-Torvik | Herman Taylor | N. Zakai | Jié Zhou | A. Hsing | L. Chu | Jennifer J. Hu | C. Pettaway | M. Sale | K. Rand | Alexander Stram | H. Okut | M. Sanderson | G. Coetzee | E. Lim | Lara E. Sucheston | Traci M Bartz | Charleston W. K. Chiang | A. Falusi | Jennifer A. Brody | Sandra L. Deming | Lorna H. McNeill | Jorge L. Rodriguez-Gil | Rebecca Rohde | Elizabeth K. Speliotes | Adam B. Murphy | Shad B. Smith | Y. Shao | Minhui Chen | Badri K. Padhukasahasram | Traci M. Bartz | S. Williams | Victoria L Buchanan | J. Yao | J. Moore | S. Patel | Y. Chen | Yongmei Liu | Cameron Palmer | Xiaofeng Zhu | Xinruo Zhang | Dhananjay Vaidya | Uma Nayak | W. Diver | Yan V. Sun | Wei Zhao | R. Ziegler | D. Rao | B. Psaty | R. Loos | A. Levin | B. Henderson | Wei Zhao | Rebecca R. Rohde | J. Palmer | Jennifer A. Smith | Degui Zhi | Daniel Shriner | R. Cooper | Scott M. Williams | Qing Duan

[1]  D. Schlessinger,et al.  Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan. , 2020, American journal of human genetics.

[2]  Douglas G. Altman,et al.  Analysing data and undertaking meta‐analyses , 2019, Cochrane Handbook for Systematic Reviews of Interventions.

[3]  Ira M. Hall,et al.  Exome sequencing of Finnish isolates enhances rare-variant association power , 2019, Nature.

[4]  Robert M. Maier,et al.  Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies , 2019, eLife.

[5]  Robert W. Taylor,et al.  Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease , 2017, The Journal of clinical endocrinology and metabolism.

[6]  G. Coop,et al.  Reduced signal for polygenic adaptation of height in UK Biobank , 2018, bioRxiv.

[7]  P. Visscher,et al.  Meta-analysis of genome-wide association studies for height and body mass index in ∼700,000 individuals of European ancestry , 2018, bioRxiv.

[8]  Itsik Pe'er,et al.  Statistical correction of the Winner’s Curse explains replication variability in quantitative trait genome-wide association studies , 2017, bioRxiv.

[9]  M. Lek,et al.  P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye , 2017, Human molecular genetics.

[10]  Jie Huang,et al.  Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits , 2017, American journal of human genetics.

[11]  Marcelo P. Segura-Lepe,et al.  Rare and low-frequency coding variants alter human adult height , 2016, Nature.

[12]  Matthew J. Young,et al.  Human mitochondrial DNA replication machinery and disease. , 2016, Current opinion in genetics & development.

[13]  Yi-Ping Li,et al.  TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease , 2016, Bone Research.

[14]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

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

[16]  B. Pasaniuc,et al.  Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies. , 2015, American journal of human genetics.

[17]  J. Hirschhorn,et al.  Biological interpretation of genome-wide association studies using predicted gene functions , 2015, Nature Communications.

[18]  Carson C Chow,et al.  Second-generation PLINK: rising to the challenge of larger and richer datasets , 2014, GigaScience.

[19]  P. Visscher,et al.  Title: Across-cohort Qc Analyses of Genome-wide Association Study Summary Statistics from Complex Traits Wray 1 , the Genetic Investigation of Anthropometric Traits (giant) Consortium , 2015 .

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

[21]  Richard Leslie,et al.  GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database , 2014, Bioinform..

[22]  Olivier Delaneau,et al.  Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel , 2014, Nature Communications.

[23]  Peggy Hall,et al.  The NHGRI GWAS Catalog, a curated resource of SNP-trait associations , 2013, Nucleic Acids Res..

[24]  I. Adzhubei,et al.  Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 , 2013, Current protocols in human genetics.

[25]  J. C. McDermott,et al.  Krüppel-like factor 6 (KLF6) promotes cell proliferation in skeletal myoblasts in response to TGFβ/Smad3 signaling , 2013, Skeletal Muscle.

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

[27]  Eurie L. Hong,et al.  Annotation of functional variation in personal genomes using RegulomeDB , 2012, Genome research.

[28]  P. Visscher,et al.  Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits , 2012, Nature Genetics.

[29]  Nicholas A. Johnson,et al.  Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). , 2012, Human molecular genetics.

[30]  Manolis Kellis,et al.  HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants , 2011, Nucleic Acids Res..

[31]  Gary K. Chen,et al.  Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry , 2011, PLoS genetics.

[32]  P. Visscher,et al.  GCTA: a tool for genome-wide complex trait analysis. , 2011, American journal of human genetics.

[33]  G. Abecasis,et al.  MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes , 2010, Genetic epidemiology.

[34]  Serafim Batzoglou,et al.  Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++ , 2010, PLoS Comput. Biol..

[35]  Sharon R Grossman,et al.  Integrating common and rare genetic variation in diverse human populations , 2010, Nature.

[36]  Ayellet V. Segrè,et al.  Hundreds of variants clustered in genomic loci and biological pathways affect human height , 2010, Nature.

[37]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

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

[39]  R. Prentice,et al.  Bias-reduced estimators and confidence intervals for odds ratios in genome-wide association studies. , 2008, Biostatistics.

[40]  K. Shianna,et al.  Long-range LD can confound genome scans in admixed populations. , 2008, American journal of human genetics.

[41]  C. Gieger,et al.  Identification of ten loci associated with height highlights new biological pathways in human growth , 2008, Nature Genetics.

[42]  David M. Evans,et al.  Genome-wide association analysis identifies 20 loci that influence adult height , 2008, Nature Genetics.

[43]  Zhaohui S. Qin,et al.  A second generation human haplotype map of over 3.1 million SNPs , 2007, Nature.

[44]  Delbert Dueck,et al.  Clustering by Passing Messages Between Data Points , 2007, Science.

[45]  J. Li,et al.  Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix , 2005, Heredity.

[46]  David Haussler,et al.  Phylogenetic Hidden Markov Models , 2005 .

[47]  Steven Henikoff,et al.  SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..

[48]  Edwin M Stone,et al.  Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. , 2003, Human molecular genetics.

[49]  Alexander F. Markham,et al.  ASPM is a major determinant of cerebral cortical size , 2002, Nature Genetics.

[50]  N. Yordam,,et al.  Height prognosis in children with late-diagnosed congenital hypothyroidism. , 2001, The Turkish journal of pediatrics.

[51]  H. Brinkmeier,et al.  Calcium ion in skeletal muscle: its crucial role for muscle function, plasticity, and disease. , 2000, Physiological reviews.

[52]  G. Massa,et al.  Hyperthyroidism accelerates growth in Turner's syndrome , 1992, Acta paediatrica.

[53]  A. Folsom,et al.  The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators. , 1989, American journal of epidemiology.