Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed
暂无分享,去创建一个
Nicholette D. Palmer | M. Gladwin | M. Fornage | L. Hou | A. Reiner | D. Levy | S. Redline | G. Abecasis | E. Boerwinkle | D. Nickerson | D. DeMeo | E. Silverman | J. O’Connell | D. Weeks | E. Burchard | W. Sheu | E. Bleecker | C. Albert | P. Ellinor | R. Vasan | Albert Vernon Smith | A. Battle | C. Kooperberg | J. Blangero | M. White | I. Ruczinski | Shih-Jen Hwang | S. Weiss | S. Kardia | A. Levin | B. Psaty | M. Taub | K. Taylor | J. Rotter | L. Becker | T. Thornton | A. Ashley-Koch | B. Cade | J. Brody | A. Aviv | K. Barnes | P. Peyser | M. Conomos | J. Celedón | C. Laurie | B. Custer | L. Cupples | H. Tiwari | Xiuqing Guo | M. Cho | K. North | James G. Wilson | J. Bis | S. Rich | Jennifer A. Smith | Wei Zhao | L. Launer | S. Heckbert | D. Arnett | L. Yanek | A. Correa | N. Palmer | D. Bowden | B. Freedman | B. Mitchell | Y. C. Chang | R. Loos | D. Meyers | E. Kenny | R. Mathias | J. Curran | P. Auer | M. Telen | J. Peralta | R. Kaplan | Simin Liu | J. Perry | M. Andrade | T. Blackwell | L. Williams | M. Garrett | R. Tracy | N. Pankratz | Jiang He | S. Aslibekyan | M. Irvin | Yingze Zhang | S. Kääb | S. Kelly | D. Darbar | C. Laurie | N. Rafaels | W. C. Johnson | A. Mak | A. Moscati | M. Daya | Bertha A Hidalgo | B. Konkle | J. Johnsen | C. Montgomery | M. Shoemaker | L. Raffield | Chunyu Liu | C. Ingram | N. Smith | Moritz F. Sinner | K. Wiggins | M. Nouraie | R. Deka | M. Wheeler | S. McGarvey | J. Su | E. Sabino | R. Minster | J. Weinstock | M. Armanios | A. Keramati | I. Chen | M. Arvanitis | Jennifer A. Brody | H. Gui | Jiwon Lee | L. Fuentes | J. Lane | R. Kumar | Kruthika R. Iyer | TOPMed Hematology | S. Weiss | A. Smith | M. B. Shoemaker | Marios Arvanitis | D. Demeo | A. Smith | K. Iyer | Wei Zhao | B. Psaty | R. Loos | W. C. Johnson | A. Levin | K. Taylor | D. Levy | Wei Zhao | A. Correa | Christie Ingram | Jennifer A. Smith | K. Taylor
[1] Nicola J. Rinaldi,et al. Genetic effects on gene expression across human tissues , 2017, Nature.
[2] Junjie Chen,et al. E3 Ligase RFWD3 Participates in Replication Checkpoint Control* , 2011, The Journal of Biological Chemistry.
[3] Jian-Min Yuan,et al. Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies , 2019, Nature Communications.
[4] Marylyn D. Ritchie,et al. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations , 2010, Bioinform..
[5] Elizabeth M. Smigielski,et al. dbSNP: the NCBI database of genetic variation , 2001, Nucleic Acids Res..
[6] C. Greider. Telomeres and senescence: The history, the experiment, the future , 1998, Current Biology.
[7] S. Mane,et al. Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening , 2015, Nature Genetics.
[8] Andrew Carroll,et al. WGSA: an annotation pipeline for human genome sequencing studies , 2015, Journal of Medical Genetics.
[9] Julie A. Lynch,et al. Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies. , 2019, American journal of human genetics.
[10] Lilit Nersisyan,et al. Computel: Computation of Mean Telomere Length from Whole-Genome Next-Generation Sequencing Data , 2015, PloS one.
[11] C. Harley,et al. Measurement of telomere length by the Southern blot analysis of terminal restriction fragment lengths , 2010, Nature Protocols.
[12] Ting Wang,et al. Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser , 2013, Bioinform..
[13] Michael Jones,et al. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer , 2017, Nature Genetics.
[14] David Haussler,et al. The UCSC Genome Browser database: 2018 update , 2017, Nucleic Acids Res..
[15] S. Chattopadhyay,et al. Direct interaction with and activation of p53 by SMAR1 retards cell‐cycle progression at G2/M phase and delays tumor growth in mice , 2003, International journal of cancer.
[16] Ting Wang,et al. WashU Epigenome Browser update 2019 , 2019, Nucleic Acids Res..
[17] Garth N Graham. Disparities in Cardiovascular Disease Risk in the United States , 2015, Current cardiology reviews.
[18] Andrew Carroll,et al. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology , 2017, Nature Genetics.
[19] Lin S. Chen,et al. Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal , 2017, Journal of Medical Genetics.
[20] W. G. Cochran. The combination of estimates from different experiments. , 1954 .
[21] Gautier Koscielny,et al. Open Targets Platform: new developments and updates two years on , 2018, Nucleic Acids Res..
[22] Kevin L. Keys,et al. Genetic Determinants of Telomere Length in African American Youth , 2018, Scientific Reports.
[23] Eun Yong Kang,et al. Identifying Causal Variants at Loci with Multiple Signals of Association , 2014, Genetics.
[24] T. Lange,et al. Apollo, an Artemis-Related Nuclease, Interacts with TRF2 and Protects Human Telomeres in S Phase , 2006, Current Biology.
[25] J. Arthur,et al. Comparative analysis of whole genome sequencing-based telomere length measurement techniques. , 2017, Methods.
[26] P. L. Schuck,et al. Emerging roles of CST in maintaining genome stability and human disease. , 2018, Frontiers in bioscience.
[27] A. Aviv,et al. Reflections on telomere dynamics and ageing-related diseases in humans , 2018, Philosophical Transactions of the Royal Society B: Biological Sciences.
[28] Michael Boehnke,et al. LocusZoom: regional visualization of genome-wide association scan results , 2010, Bioinform..
[29] J. Lingner,et al. Transformation-induced stress at telomeres is counteracted through changes in the telomeric proteome including SAMHD1 , 2018, Life Science Alliance.
[30] D. Lin. A simple and accurate method to determine genomewide significance for association tests in sequencing studies , 2019, Genetic epidemiology.
[31] Mark Gerstein,et al. GENCODE reference annotation for the human and mouse genomes , 2018, Nucleic Acids Res..
[32] Anne V. Herdman,et al. Diabetic ketoacidosis increases extracellular levels of the major inducible 70-kDa heat shock protein. , 2005, Clinical Biochemistry.
[33] P. D. Jones,et al. Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length , 2020, American journal of human genetics.
[34] Bjarni V. Halldórsson,et al. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits , 2018, Nature Communications.
[35] Joshua C. Denny,et al. R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment , 2014, Bioinform..
[36] Richard Durbin,et al. Estimating telomere length from whole genome sequence data , 2014, Nucleic acids research.
[37] Trevor Hastie,et al. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. , 2016, American journal of human genetics.
[38] J. Chang-Claude,et al. A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk , 2013, Human molecular genetics.
[39] E. Blackburn,et al. Impartial comparative analysis of measurement of leukocyte telomere length/DNA content by Southern blots and qPCR , 2011, Nucleic acids research.
[40] E. Gilson,et al. The Apollo 5′ Exonuclease Functions Together with TRF2 to Protect Telomeres from DNA Repair , 2006, Current Biology.
[41] Yongyong Shi,et al. A Genome-Wide Association Study Identifies a Locus on TERT for Mean Telomere Length in Han Chinese , 2014, PloS one.
[42] Anushya Muruganujan,et al. Protocol Update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0) , 2019, Nature Protocols.
[43] Seunggeun Lee,et al. A fast and accurate algorithm to test for binary phenotypes and its application to PheWAS , 2017, bioRxiv.
[44] Tom R. Gaunt,et al. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study , 2017 .
[45] Bruce S Weir,et al. Model-free Estimation of Recent Genetic Relatedness. , 2016, American journal of human genetics.
[46] A. Pettitt,et al. Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci , 2017, Scientific Reports.
[47] Gill Bejerano,et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity , 2016, Nature Genetics.
[48] Sina A. Gharib,et al. Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis , 2018, bioRxiv.
[49] R. Pfeiffer,et al. The Association of Telomere Length and Cancer: a Meta-analysis , 2011, Cancer Epidemiology, Biomarkers & Prevention.
[50] Yun Li,et al. METAL: fast and efficient meta-analysis of genomewide association scans , 2010, Bioinform..
[51] A. Reiner,et al. DCAF4, a novel gene associated with leucocyte telomere length , 2015, Journal of Medical Genetics.
[52] S. Shete,et al. A Genome-Wide Association Study Identifies a Locus on Chromosome 14q21 as a Predictor of Leukocyte Telomere Length and as a Marker of Susceptibility for Bladder Cancer , 2011, Cancer Prevention Research.
[53] M. Fenech,et al. A quantitative PCR method for measuring absolute telomere length , 2011, Biological Procedures Online.
[54] P. Donnelly,et al. The UK Biobank resource with deep phenotyping and genomic data , 2018, Nature.
[55] Margaret A. Strong,et al. Diagnostic utility of telomere length testing in a hospital-based setting , 2018, Proceedings of the National Academy of Sciences.
[56] C. Wallace,et al. Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics , 2013, PLoS genetics.
[57] Tamar Sofer,et al. Genetic association testing using the GENESIS R/Bioconductor package , 2019, Bioinform..
[58] Hatice Gulcin Ozer,et al. Whole-exome tumor sequencing study in biliary cancer patients with a response to MEK inhibitors , 2015, Oncotarget.
[59] Xihong Lin,et al. Rare-variant association testing for sequencing data with the sequence kernel association test. , 2011, American journal of human genetics.
[60] Matthew E. B. Hansen,et al. Shorter telomere length in Europeans than in Africans due to polygenetic adaptation. , 2016, Human molecular genetics.
[61] Elmar Wahle,et al. Structural insight into poly(A) binding and catalytic mechanism of human PARN , 2005, The EMBO journal.
[62] G. Abecasis,et al. An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data , 2015, Genome research.
[63] Andy G Lynch,et al. Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data , 2017, Scientific Reports.
[64] Seunggeun Lee,et al. Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies , 2018, bioRxiv.
[65] Bin Tean Teh,et al. Genome-wide association study identifies multiple risk loci for renal cell carcinoma , 2017, Nature Communications.
[66] Brent S. Pedersen,et al. Mosdepth: quick coverage calculation for genomes and exomes , 2017, bioRxiv.
[67] Latarsha J. Carithers,et al. The Genotype-Tissue Expression (GTEx) Project. , 2015, Biopreservation and biobanking.
[68] Anushya Muruganujan,et al. Large-scale gene function analysis with the PANTHER classification system , 2013, Nature Protocols.
[69] T. Spector,et al. A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length , 2009, Journal of Medical Genetics.
[70] E. Epel,et al. Human telomere biology: A contributory and interactive factor in aging, disease risks, and protection , 2015, Science.
[71] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[72] Tamar Sofer,et al. A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies , 2018, bioRxiv.
[73] Andrew D. Johnson,et al. Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology , 2010, Proceedings of the National Academy of Sciences.
[74] T. Spector,et al. Genome-Wide Association Study Identifies Variants in Casein Kinase II (CSNK2A2) to be Associated With Leukocyte Telomere Length in a Punjabi Sikh Diabetic Cohort , 2014, Circulation. Cardiovascular genetics.
[75] M. Nalls,et al. Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans , 2012, Human molecular genetics.
[76] William J. Astle,et al. Allelic Landscape of Human Blood Cell Trait Variation and Links , 2016 .
[77] P. O’Reilly,et al. Identification of seven loci affecting mean telomere length and their association with disease , 2013, Nature Genetics.
[78] Dan-Yu Lin,et al. Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs. , 2015, American journal of human genetics.
[79] John D. Storey,et al. Capturing Heterogeneity in Gene Expression Studies by Surrogate Variable Analysis , 2007, PLoS genetics.
[80] I. Ruczinski,et al. Targeted deep sequencing of the PEAR1 locus for platelet aggregation in European and African American families , 2019, Platelets.
[81] Alan M. Kwong,et al. A reference panel of 64,976 haplotypes for genotype imputation , 2015, Nature Genetics.
[82] Mark Daly,et al. Haploview: analysis and visualization of LD and haplotype maps , 2005, Bioinform..
[83] Min Zhang,et al. The CXXC finger 5 protein is required for DNA damage-induced p53 activation , 2009, Science in China Series C: Life Sciences.
[84] Nathan Halko,et al. Finding Structure with Randomness: Probabilistic Algorithms for Constructing Approximate Matrix Decompositions , 2009, SIAM Rev..
[85] Terrence S. Furey,et al. The UCSC Genome Browser Database , 2003, Nucleic Acids Res..
[86] Christopher D. Brown,et al. The GTEx Consortium atlas of genetic regulatory effects across human tissues , 2019, Science.
[87] A. Keech,et al. Shorter telomeres in adults with Type 1 diabetes correlate with diabetes duration, but only weakly with vascular function and risk factors. , 2016, Diabetes research and clinical practice.
[88] A. Fischer,et al. Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome , 2010, Proceedings of the National Academy of Sciences.
[89] David G. Knowles,et al. Fast Computation and Applications of Genome Mappability , 2012, PloS one.
[90] Alexander R. Pico,et al. Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk , 2014, Nature Genetics.
[91] D. Chasman,et al. Genome-Wide Association Study of Relative Telomere Length , 2011, PloS one.
[92] Timothy A Thornton,et al. Robust Inference of Population Structure for Ancestry Prediction and Correction of Stratification in the Presence of Relatedness , 2015, Genetic epidemiology.
[93] R. Durbin,et al. Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses , 2012, Nature Protocols.
[94] Brian E. Cade,et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program , 2019, Nature.
[95] Jianxin Shi,et al. Optimal methods for meta‐analysis of genome‐wide association studies , 2011, Genetic epidemiology.
[96] T. Spector,et al. Common variants near TERC are associated with mean telomere length , 2010, Nature Genetics.
[97] E. Boerwinkle,et al. dbNSFP v3.0: A One‐Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice‐Site SNVs , 2016, Human mutation.
[98] A. Reiner,et al. Leukocyte telomere length and cardiovascular disease in African Americans: The Jackson Heart Study. , 2017, Atherosclerosis.
[99] Michael Q. Zhang,et al. Integrative analysis of 111 reference human epigenomes , 2015, Nature.