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Volumn 50, Issue 4, 2018, Pages 549-558

Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis

(23)  Zengini, Eleni a,b   Hatzikotoulas, Konstantinos c   Tachmazidou, Ioanna c,d   Steinberg, Julia c,e   Hartwig, Fernando P f,g   Southam, Lorraine c,h   Hackinger, Sophie c   Boer, Cindy G i   Styrkarsdottir, Unnur j   Gilly, Arthur c   Suveges, Daniel c   Killian, Britt c   Ingvarsson, Thorvaldur k,l,m   Jonsson, Helgi l,n   Babis, George C o   McCaskie, Andrew p   Uitterlinden, Andre G i   Van Meurs, Joyce B J i   Thorsteinsdottir, Unnur j,l   Stefansson, Kari j,l   more..


Author keywords

[No Author keywords available]

Indexed keywords

TRIACYLGLYCEROL; UNTRANSLATED RNA;

EID: 85044225612     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/s41588-018-0079-y     Document Type: Article
Times cited : (219)

References (58)
  • 2
    • 0033775218 scopus 로고    scopus 로고
    • Osteoarthritis: New insights. Part 1: The disease and its risk factors
    • Felson, D. T. et al. Osteoarthritis: new insights. Part 1: the disease and its risk factors. Ann. Intern. Med. 133, 635-646 (2000).
    • (2000) Ann. Intern. Med , vol.133 , pp. 635-646
    • Felson, D.T.1
  • 3
  • 4
    • 84881614989 scopus 로고    scopus 로고
    • Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants
    • Ma, C., Blackwell, T., Boehnke, M. & Scott, L. J., GoT2D investigators. Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants. Genet. Epidemiol. 37, 539-550 (2013).
    • (2013) Genet. Epidemiol , vol.37 , pp. 539-550
    • Ma, C.1    Blackwell, T.2    Boehnke, M.3    Scott, L.J.4
  • 5
    • 84962127904 scopus 로고    scopus 로고
    • Mitogen-activated protein kinase phosphatase-1: Function and regulation in bone and related tissues
    • Broome, D. T. & Datta, N. S. Mitogen-activated protein kinase phosphatase-1: function and regulation in bone and related tissues. Connect. Tissue Res. 57, 175-189 (2016).
    • (2016) Connect. Tissue Res , vol.57 , pp. 175-189
    • Broome, D.T.1    Datta, N.S.2
  • 7
    • 34548229166 scopus 로고    scopus 로고
    • CD95-induced osteoarthritic chondrocyte apoptosis and necrosis: Dependency on p38 mitogen-activated protein kinase
    • Wei, L., Sun, X. J., Wang, Z. & Chen, Q. CD95-induced osteoarthritic chondrocyte apoptosis and necrosis: dependency on p38 mitogen-activated protein kinase. Arthritis Res. Ther. 8, R37 (2006).
    • (2006) Arthritis Res. Ther , vol.8 , pp. R37
    • Wei, L.1    Sun, X.J.2    Wang, Z.3    Chen, Q.4
  • 8
    • 84940163308 scopus 로고    scopus 로고
    • Bioinformatics analysis of gene expression profiles of osteoarthritis
    • Wang, Q. et al. Bioinformatics analysis of gene expression profiles of osteoarthritis. Acta Histochem. 117, 40-46 (2015).
    • (2015) Acta Histochem , vol.117 , pp. 40-46
    • Wang, Q.1
  • 9
    • 72049114993 scopus 로고    scopus 로고
    • Osteoarthritic cartilage chondrocytes alter subchondral bone osteoblast differentiation via MAPK signalling pathway involving ERK1/2
    • Prasadam, I. et al. Osteoarthritic cartilage chondrocytes alter subchondral bone osteoblast differentiation via MAPK signalling pathway involving ERK1/2. Bone 46, 226-235 (2010).
    • (2010) Bone , vol.46 , pp. 226-235
    • Prasadam, I.1
  • 10
    • 84860249551 scopus 로고    scopus 로고
    • Inhibition of p38 pathway leads to OA-like changes in a rat animal model
    • Prasadam, I. et al. Inhibition of p38 pathway leads to OA-like changes in a rat animal model. Rheumatology (Oxford) 51, 813-823 (2012).
    • (2012) Rheumatology (Oxford) , vol.51 , pp. 813-823
    • Prasadam, I.1
  • 11
    • 77951733792 scopus 로고    scopus 로고
    • ERK-1/2 and p38 in the regulation of hypertrophic changes of normal articular cartilage chondrocytes induced by osteoarthritic subchondral osteoblasts
    • Prasadam, I. et al. ERK-1/2 and p38 in the regulation of hypertrophic changes of normal articular cartilage chondrocytes induced by osteoarthritic subchondral osteoblasts. Arthritis Rheum. 62, 1349-1360 (2010).
    • (2010) Arthritis Rheum , vol.62 , pp. 1349-1360
    • Prasadam, I.1
  • 12
    • 84912566992 scopus 로고    scopus 로고
    • A review of crosstalk between MAPK and Wnt signals and its impact on cartilage regeneration
    • Zhang, Y., Pizzute, T. & Pei, M. A review of crosstalk between MAPK and Wnt signals and its impact on cartilage regeneration. Cell Tissue Res. 358, 633-649 (2014).
    • (2014) Cell Tissue Res , vol.358 , pp. 633-649
    • Zhang, Y.1    Pizzute, T.2    Pei, M.3
  • 13
    • 55849133703 scopus 로고    scopus 로고
    • Reduced limb length and worsened osteoarthritis in adult mice after genetic inhibition of p38 MAP kinase activity in cartilage
    • Namdari, S., Wei, L., Moore, D. & Chen, Q. Reduced limb length and worsened osteoarthritis in adult mice after genetic inhibition of p38 MAP kinase activity in cartilage. Arthritis Rheum. 58, 3520-3529 (2008).
    • (2008) Arthritis Rheum , vol.58 , pp. 3520-3529
    • Namdari, S.1    Wei, L.2    Moore, D.3    Chen, Q.4
  • 14
    • 31044432518 scopus 로고    scopus 로고
    • Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation
    • Zhang, R., Murakami, S., Coustry, F., Wang, Y. & de Crombrugghe, B. Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation. Proc. Natl Acad. Sci. USA 103, 365-370 (2006).
    • (2006) Proc. Natl Acad. Sci. USA , vol.103 , pp. 365-370
    • Zhang, R.1    Murakami, S.2    Coustry, F.3    Wang, Y.4    De Crombrugghe, B.5
  • 15
    • 84879796143 scopus 로고    scopus 로고
    • Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve
    • Castañón, M. J., Walko, G., Winter, L. & Wiche, G. Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve. Histochem. Cell Biol. 140, 33-53 (2013).
    • (2013) Histochem. Cell Biol , vol.140 , pp. 33-53
    • Castañón, M.J.1    Walko, G.2    Winter, L.3    Wiche, G.4
  • 16
    • 85016409296 scopus 로고    scopus 로고
    • Zinc finger protein ZFP36L1 promotes osteoblastic differentiation but represses adipogenic differentiation of mouse multipotent cells
    • Tseng, K. Y., Chen, Y. H. & Lin, S. Zinc finger protein ZFP36L1 promotes osteoblastic differentiation but represses adipogenic differentiation of mouse multipotent cells. Oncotarget 8, 20588-20601 (2017).
    • (2017) Oncotarget , vol.8 , pp. 20588-20601
    • Tseng, K.Y.1    Chen, Y.H.2    Lin, S.3
  • 17
    • 84994339045 scopus 로고    scopus 로고
    • Novel genetic variants for cartilage thickness and hip osteoarthritis
    • Castaño-Betancourt, M. C. et al. Novel genetic variants for cartilage thickness and hip osteoarthritis. PLoS Genet. 12, e1006260 (2016).
    • (2016) PLoS Genet , vol.12 , pp. e1006260
    • Castaño-Betancourt, M.C.1
  • 18
    • 84861121887 scopus 로고    scopus 로고
    • Transforming growth factor alpha controls the transition from hypertrophic cartilage to bone during endochondral bone growth
    • Usmani, S. E. et al. Transforming growth factor alpha controls the transition from hypertrophic cartilage to bone during endochondral bone growth. Bone 51, 131-141 (2012).
    • (2012) Bone , vol.51 , pp. 131-141
    • Usmani, S.E.1
  • 19
    • 36049030602 scopus 로고    scopus 로고
    • Transforming growth factor alpha suppression of articular chondrocyte phenotype and Sox9 expression in a rat model of osteoarthritis
    • Appleton, C. T., Usmani, S. E., Bernier, S. M., Aigner, T. & Beier, F. Transforming growth factor alpha suppression of articular chondrocyte phenotype and Sox9 expression in a rat model of osteoarthritis. Arthritis Rheum. 56, 3693-3705 (2007).
    • (2007) Arthritis Rheum , vol.56 , pp. 3693-3705
    • Appleton, C.T.1    Usmani, S.E.2    Bernier, S.M.3    Aigner, T.4    Beier, F.5
  • 20
    • 73349091526 scopus 로고    scopus 로고
    • Rho/ROCK and MEK/ ERK activation by transforming growth factor-alpha induces articular cartilage degradation
    • Appleton, C. T., Usmani, S. E., Mort, J. S. & Beier, F. Rho/ROCK and MEK/ ERK activation by transforming growth factor-alpha induces articular cartilage degradation. Lab. Invest. 90, 20-30 (2010).
    • (2010) Lab. Invest , vol.90 , pp. 20-30
    • Appleton, C.T.1    Usmani, S.E.2    Mort, J.S.3    Beier, F.4
  • 21
    • 84979781324 scopus 로고    scopus 로고
    • Context-specific protection of TGFα null mice from osteoarthritis
    • Usmani, S. E. et al. Context-specific protection of TGFα null mice from osteoarthritis. Sci. Rep. 6, 30434 (2016).
    • (2016) Sci. Rep , vol.6 , pp. 30434
    • Usmani, S.E.1
  • 22
    • 0032930859 scopus 로고    scopus 로고
    • Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure
    • Miettinen, P. J. et al. Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure. Nat. Genet. 22, 69-73 (1999).
    • (1999) Nat. Genet , vol.22 , pp. 69-73
    • Miettinen, P.J.1
  • 23
    • 60549094028 scopus 로고    scopus 로고
    • A mouse forward genetics screen identifies LISTERIN as an E3 ubiquitin ligase involved in neurodegeneration
    • Chu, J. et al. A mouse forward genetics screen identifies LISTERIN as an E3 ubiquitin ligase involved in neurodegeneration. Proc. Natl Acad. Sci. USA 106, 2097-2103 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 2097-2103
    • Chu, J.1
  • 24
    • 84955654523 scopus 로고    scopus 로고
    • Protein prenylation: Unique fats make their mark on biology
    • Wang, M. & Casey, P. J. Protein prenylation: unique fats make their mark on biology. Nat. Rev. Mol. Cell Biol. 17, 110-122 (2016).
    • (2016) Nat. Rev. Mol. Cell Biol , vol.17 , pp. 110-122
    • Wang, M.1    Casey, P.J.2
  • 25
    • 59949097474 scopus 로고    scopus 로고
    • Large-scale proteomics and phosphoproteomics of urinary exosomes
    • Gonzales, P. A. et al. Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20, 363-379 (2009).
    • (2009) J. Am. Soc. Nephrol , vol.20 , pp. 363-379
    • Gonzales, P.A.1
  • 26
    • 44549088996 scopus 로고    scopus 로고
    • Comparison between osteoblasts derived from human dental pulp stem cells and osteosarcoma cell lines
    • Palmieri, A. et al. Comparison between osteoblasts derived from human dental pulp stem cells and osteosarcoma cell lines. Cell Biol. Int. 32, 733-738 (2008).
    • (2008) Cell Biol. Int , vol.32 , pp. 733-738
    • Palmieri, A.1
  • 27
    • 46449088586 scopus 로고    scopus 로고
    • Oxidative stress reaction in the meniscus of Bach 1 deficient mice: Potential prevention of meniscal degeneration
    • Ochiai, S. et al. Oxidative stress reaction in the meniscus of Bach 1 deficient mice: potential prevention of meniscal degeneration. J. Orthop. Res. 26, 894-898 (2008).
    • (2008) J. Orthop. Res , vol.26 , pp. 894-898
    • Ochiai, S.1
  • 28
    • 84944058954 scopus 로고    scopus 로고
    • Bach1 deficiency reduces severity of osteoarthritis through upregulation of heme oxygenase-1
    • Takada, T. et al. Bach1 deficiency reduces severity of osteoarthritis through upregulation of heme oxygenase-1. Arthritis Res. Ther. 17, 285 (2015).
    • (2015) Arthritis Res. Ther , vol.17 , pp. 285
    • Takada, T.1
  • 29
    • 85026427115 scopus 로고    scopus 로고
    • Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk
    • Capellini, T. D. et al. Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk. Nat. Genet. 49, 1202-1210 (2017).
    • (2017) Nat. Genet , vol.49 , pp. 1202-1210
    • Capellini, T.D.1
  • 30
    • 78650666914 scopus 로고    scopus 로고
    • GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes
    • Daans, M., Luyten, F. P. & Lories, R. J. GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes. Ann. Rheum. Dis. 70, 208-213 (2011).
    • (2011) Ann. Rheum. Dis , vol.70 , pp. 208-213
    • Daans, M.1    Luyten, F.P.2    Lories, R.J.3
  • 31
    • 34047103363 scopus 로고    scopus 로고
    • A functional polymorphism in the 5'UTR of GDF5 is associated with susceptibility to osteoarthritis
    • Miyamoto, Y. et al. A functional polymorphism in the 5'UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat. Genet. 39, 529-533 (2007).
    • (2007) Nat. Genet , vol.39 , pp. 529-533
    • Miyamoto, Y.1
  • 32
    • 34548409926 scopus 로고    scopus 로고
    • An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage
    • Southam, L. et al. An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Hum. Mol. Genet. 16, 2226-2232 (2007).
    • (2007) Hum. Mol. Genet , vol.16 , pp. 2226-2232
    • Southam, L.1
  • 33
    • 0037322022 scopus 로고    scopus 로고
    • Mendelian randomization': Can genetic epidemiology contribute to understanding environmental determinants of disease?
    • Davey Smith, G. & Ebrahim, S. 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? Int. J. Epidemiol. 32, 1-22 (2003).
    • (2003) Int. J. Epidemiol , vol.32 , pp. 1-22
    • Davey Smith, G.1    Ebrahim, S.2
  • 34
    • 84877630645 scopus 로고    scopus 로고
    • An increased rate of falling leads to a rise in fracture risk in postmenopausal women with self-reported osteoarthritis: A prospective multinational cohort study (GLOW)
    • Prieto-Alhambra, D. et al. An increased rate of falling leads to a rise in fracture risk in postmenopausal women with self-reported osteoarthritis: a prospective multinational cohort study (GLOW). Ann. Rheum. Dis. 72, 911-917 (2013).
    • (2013) Ann. Rheum. Dis , vol.72 , pp. 911-917
    • Prieto-Alhambra, D.1
  • 35
    • 85016509937 scopus 로고    scopus 로고
    • Self-reported knee pain and disability among healthy individuals: Reference data and factors associated with the knee injury and osteoarthritis outcome score (KOOS) and KOOS-Child
    • Baldwin, J. N. et al. Self-reported knee pain and disability among healthy individuals: reference data and factors associated with the knee injury and osteoarthritis outcome score (KOOS) and KOOS-Child. Osteoarthritis Cartilage 25, 1282-1290 (2017).
    • (2017) Osteoarthritis Cartilage , vol.25 , pp. 1282-1290
    • Baldwin, J.N.1
  • 36
    • 80054101725 scopus 로고    scopus 로고
    • Associations of educational attainment, occupation and community poverty with knee osteoarthritis in the Johnston County (North Carolina) osteoarthritis project
    • Callahan, L. F. et al. Associations of educational attainment, occupation and community poverty with knee osteoarthritis in the Johnston County (North Carolina) osteoarthritis project. Arthritis Res. Ther. 13, R169 (2011).
    • (2011) Arthritis Res. Ther , vol.13 , pp. R169
    • Callahan, L.F.1
  • 37
    • 85021783975 scopus 로고    scopus 로고
    • How are obesity and body composition related to patellar cartilage? a systematic review
    • Hussain, S. M. et al. How are obesity and body composition related to patellar cartilage? a systematic review. J. Rheumatol. 44, 1071-1082 (2017).
    • (2017) J. Rheumatol , vol.44 , pp. 1071-1082
    • Hussain, S.M.1
  • 38
    • 34548356858 scopus 로고    scopus 로고
    • The impact of residual and unmeasured confounding in epidemiologic studies: A simulation study
    • Fewell, Z., Davey Smith, G. & Sterne, J. A. The impact of residual and unmeasured confounding in epidemiologic studies: a simulation study. Am. J. Epidemiol. 166, 646-655 (2007).
    • (2007) Am. J. Epidemiol , vol.166 , pp. 646-655
    • Fewell, Z.1    Davey Smith, G.2    Sterne, J.A.3
  • 39
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes
    • Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet. 39, 906-913 (2007).
    • (2007) Nat. Genet , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5
  • 40
    • 77955894071 scopus 로고    scopus 로고
    • METAL: Fast and efficient meta-analysis of genomewide association scans
    • Willer, C. J., Li, Y. & Abecasis, G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190-2191 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 2190-2191
    • Willer, C.J.1    Li, Y.2    Abecasis, G.R.3
  • 41
    • 77952474075 scopus 로고    scopus 로고
    • Association between occupation and knee and hip replacement due to osteoarthritis: A case-control study
    • Franklin, J., Ingvarsson, T., Englund, M. & Lohmander, S. Association between occupation and knee and hip replacement due to osteoarthritis: a case-control study. Arthritis Res. Ther. 12, R102 (2010).
    • (2010) Arthritis Res. Ther , vol.12 , pp. R102
    • Franklin, J.1    Ingvarsson, T.2    Englund, M.3    Lohmander, S.4
  • 42
    • 85015667730 scopus 로고    scopus 로고
    • Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis
    • Styrkarsdottir, U. et al. Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. Nat. Genet. 49, 801-805 (2017).
    • (2017) Nat. Genet , vol.49 , pp. 801-805
    • Styrkarsdottir, U.1
  • 43
    • 69949134005 scopus 로고    scopus 로고
    • CHECK (Cohort Hip and Cohort Knee): Similarities and differences with the Osteoarthritis Initiative
    • Wesseling, J. et al. CHECK (Cohort Hip and Cohort Knee): similarities and differences with the Osteoarthritis Initiative. Ann. Rheum. Dis. 68, 1413-1419 (2009).
    • (2009) Ann. Rheum. Dis , vol.68 , pp. 1413-1419
    • Wesseling, J.1
  • 44
    • 85029458643 scopus 로고    scopus 로고
    • Integrative epigenomics, transcriptomics and proteomics of patient chondrocytes reveal genes and pathways involved in osteoarthritis
    • Steinberg, J. et al. Integrative epigenomics, transcriptomics and proteomics of patient chondrocytes reveal genes and pathways involved in osteoarthritis. Sci. Rep. 7, 8935 (2017).
    • (2017) Sci. Rep , vol.7 , pp. 8935
    • Steinberg, J.1
  • 45
    • 84926507971 scopus 로고    scopus 로고
    • Limma powers differential expression analyses for RNA-sequencing and microarray studies
    • Ritchie, M. E. et al. limma powers differential expression analyses for RNA-sequencing and microarray studies. Nucleic Acids Res. 43, e47 (2015).
    • (2015) Nucleic Acids Res , vol.43 , pp. e47
    • Ritchie, M.E.1
  • 46
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1
  • 47
    • 84902705625 scopus 로고    scopus 로고
    • Biobambam: Tools for read pair collation based algorithms on BAM files
    • Tischler, G. & Leonard, S. biobambam: tools for read pair collation based algorithms on BAM files. Source Code Biol. Med. 9, 13 (2014).
    • (2014) Source Code Biol. Med , vol.9 , pp. 13
    • Tischler, G.1    Leonard, S.2
  • 48
    • 85014549629 scopus 로고    scopus 로고
    • Salmon provides fast and bias-aware quantification of transcript expression
    • Patro, R., Duggal, G., Love, M. I., Irizarry, R. A. & Kingsford, C. Salmon provides fast and bias-aware quantification of transcript expression. Nat. Methods 14, 417-419 (2017).
    • (2017) Nat. Methods , vol.14 , pp. 417-419
    • Patro, R.1    Duggal, G.2    Love, M.I.3    Irizarry, R.A.4    Kingsford, C.5
  • 49
    • 84896735766 scopus 로고    scopus 로고
    • Voom: Precision weights unlock linear model analysis tools for RNA-seq read counts
    • Law, C. W., Chen, Y., Shi, W. & Smyth, G. K. voom: precision weights unlock linear model analysis tools for RNA-seq read counts. Genome Biol. 15, R29 (2014).
    • (2014) Genome Biol , vol.15 , pp. R29
    • Law, C.W.1    Chen, Y.2    Shi, W.3    Smyth, G.K.4
  • 50
    • 84943182742 scopus 로고    scopus 로고
    • The UK10K project identifies rare variants in health and disease
    • UK10K Consortium. et al. The UK10K project identifies rare variants in health and disease. Nature 526, 82-90 (2015).
    • (2015) Nature , vol.526 , pp. 82-90
  • 51
    • 84943171338 scopus 로고    scopus 로고
    • A global reference for human genetic variation
    • 1000 Genomes Project Consortium. et al. A global reference for human genetic variation. Nature 526, 68-74 (2015).
    • (2015) Nature , vol.526 , pp. 68-74
  • 52
    • 84937035185 scopus 로고    scopus 로고
    • Fine mapping causal variants with an approximate Bayesian method using marginal test statistics
    • Chen, W. et al. Fine mapping causal variants with an approximate Bayesian method using marginal test statistics. Genetics 200, 719-736 (2015).
    • (2015) Genetics , vol.200 , pp. 719-736
    • Chen, W.1
  • 53
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher, M. et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46, 310-315 (2014).
    • (2014) Nat. Genet , vol.46 , pp. 310-315
    • Kircher, M.1
  • 54
    • 84956688641 scopus 로고    scopus 로고
    • A spectral approach integrating functional genomic annotations for coding and noncoding variants
    • Ionita-Laza, I., McCallum, K., Xu, B. & Buxbaum, J. D. A spectral approach integrating functional genomic annotations for coding and noncoding variants. Nat. Genet. 48, 214-220 (2016).
    • (2016) Nat. Genet , vol.48 , pp. 214-220
    • Ionita-Laza, I.1    McCallum, K.2    Xu, B.3    Buxbaum, J.D.4
  • 55
    • 84988713790 scopus 로고    scopus 로고
    • Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
    • Iotchkova, V. et al. Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nat. Genet. 48, 1303-1312 (2016).
    • (2016) Nat. Genet , vol.48 , pp. 1303-1312
    • Iotchkova, V.1
  • 56
    • 85028296791 scopus 로고    scopus 로고
    • LD Hub: A centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis
    • Zheng, J. et al. LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. Bioinformatics 33, 272-279 (2017).
    • (2017) Bioinformatics , vol.33 , pp. 272-279
    • Zheng, J.1
  • 58
    • 84992744163 scopus 로고    scopus 로고
    • Genome-wide analysis identifies 12 loci influencing human reproductive behavior
    • Barban, N. et al. Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nat. Genet. 48, 1462-1472 (2016).
    • (2016) Nat. Genet , vol.48 , pp. 1462-1472
    • Barban, N.1


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