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Volumn 47, Issue 11, 2015, Pages 1264-1271

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

(26)  Danjou, Fabrice a   Zoledziewska, Magdalena a   Sidore, Carlo a,b,c   Steri, Maristella a   Busonero, Fabio a,b   Maschio, Andrea a,b   Mulas, Antonella a,c   Perseu, Lucia a   Barella, Susanna d   Porcu, Eleonora a,b,c   Pistis, Giorgio a,b,c   Pitzalis, Maristella a   Pala, Mauro a   Menzel, Stephan e   Metrustry, Sarah e   Spector, Timothy D e   Leoni, Lidia f   Angius, Andrea a,f   Uda, Manuela a   Moi, Paolo d,g   more..


Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; HEMOGLOBIN A1C; HEMOGLOBIN A2; HEMOGLOBIN F; RNA POLYMERASE II; TRANSCRIPTION FACTOR GATA; TRIACYLGLYCEROL; HEMOGLOBIN ALPHA CHAIN; HEMOGLOBIN BETA CHAIN;

EID: 84945346364     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3307     Document Type: Article
Times cited : (61)

References (82)
  • 1
    • 77949846880 scopus 로고    scopus 로고
    • Advances in the understanding of haemoglobin switching
    • Sankaran, V.G., Xu, J., & Orkin, S.H. Advances in the understanding of haemoglobin switching. Br. J. Haematol. 149, 181-194 (2010).
    • (2010) Br. J. Haematol. , vol.149 , pp. 181-194
    • Sankaran, V.G.1    Xu, J.2    Orkin, S.H.3
  • 2
    • 44949128064 scopus 로고    scopus 로고
    • Global epidemiology of haemoglobin disorders and derived service indicators
    • Modell, B., & Darlison, M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull. World Health Organ. 86, 480-487 (2008).
    • (2008) Bull. World Health Organ. , vol.86 , pp. 480-487
    • Modell, B.1    Darlison, M.2
  • 3
    • 84908885451 scopus 로고    scopus 로고
    • Reappraisal of known malaria resistance loci in a large multicenter study
    • Malaria Genomic Epidemiology Network.
    • Malaria Genomic Epidemiology Network. Reappraisal of known malaria resistance loci in a large multicenter study. Nat. Genet. 46, 1197-1204 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 1197-1204
  • 4
    • 33748039452 scopus 로고    scopus 로고
    • Heritability of cardiovascular and personality traits in 6, 148 Sardinians
    • Pilia, G., et al. Heritability of cardiovascular and personality traits in 6, 148 Sardinians. PLoS Genet. 2, e132 (2006).
    • (2006) PLoS Genet. , vol.2 , pp. e132
    • Pilia, G.1
  • 5
    • 84870857735 scopus 로고    scopus 로고
    • HbA2 levels in normal adults are influenced by two distinct genetic mechanisms
    • Menzel, S., Garner, C., Rooks, H., Spector, T.D., & Thein, S.L. HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. Br. J. Haematol. 160, 101-105 (2013).
    • (2013) Br. J. Haematol. , vol.160 , pp. 101-105
    • Menzel, S.1    Garner, C.2    Rooks, H.3    Spector, T.D.4    Thein, S.L.5
  • 6
    • 84865714645 scopus 로고    scopus 로고
    • Meta-Analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans
    • Bae, H.T., et al. Meta-Analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans. Blood 120, 1961-1962 (2012).
    • (2012) Blood , vol.120 , pp. 1961-1962
    • Bae, H.T.1
  • 7
    • 40349092939 scopus 로고    scopus 로고
    • Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of b-Dhalassemia
    • Uda, M., et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of b-Dhalassemia. Proc. Natl. Acad. Sci. USA 105, 1620-1625 (2008).
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , pp. 1620-1625
    • Uda, M.1
  • 8
    • 50149117726 scopus 로고    scopus 로고
    • DNA polymorphisms at the BCL11A, HBS1L-MYB, and b-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
    • Lettre, G., et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and b-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc. Natl. Acad. Sci. USA 105, 11869-11874 (2008).
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , pp. 11869-11874
    • Lettre, G.1
  • 9
    • 84862901436 scopus 로고    scopus 로고
    • Genetic modifiers of b-Dhalassemia and clinical severity as assessed by age at first transfusion
    • Danjou, F., et al. Genetic modifiers of b-Dhalassemia and clinical severity as assessed by age at first transfusion. Haematologica 97, 989-993 (2012).
    • (2012) Haematologica , vol.97 , pp. 989-993
    • Danjou, F.1
  • 10
    • 84926314486 scopus 로고    scopus 로고
    • A genetic score for the prediction of b-Dhalassemia severity
    • Danjou, F., et al. A genetic score for the prediction of b-Dhalassemia severity. Haematologica 100, 452-457 (2015).
    • (2015) Haematologica , vol.100 , pp. 452-457
    • Danjou, F.1
  • 11
    • 84871464519 scopus 로고    scopus 로고
    • Seventy-five genetic loci influencing the human red blood cell
    • van der Harst, P., et al. Seventy-five genetic loci influencing the human red blood cell. Nature 492, 369-375 (2012).
    • (2012) Nature , vol.492 , pp. 369-375
    • Van Der Harst, P.1
  • 12
    • 0019622712 scopus 로고
    • Beta zero thalassemia in Sardinia is caused by a nonsense mutation
    • Trecartin, R.F., et al. Beta zero thalassemia in Sardinia is caused by a nonsense mutation. J. Clin. Invest. 68, 1012-1017 (1981).
    • (1981) J. Clin. Invest. , vol.68 , pp. 1012-1017
    • Trecartin, R.F.1
  • 13
    • 84945370533 scopus 로고    scopus 로고
    • Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers
    • doi:10.1038/ng.3368 (14 September
    • Sidore C., et al. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Nat. Genet. doi:10.1038/ng.3368 14 September 2015).
    • (2015) Nat. Genet.
    • Sidore, C.1
  • 14
    • 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
  • 15
    • 0037209029 scopus 로고    scopus 로고
    • Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions
    • Freson, K., et al. Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions. Hum. Genet. 112, 42-49 (2003).
    • (2003) Hum. Genet. , vol.112 , pp. 42-49
    • Freson, K.1
  • 16
    • 0034052854 scopus 로고    scopus 로고
    • Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
    • Nichols, K.E., et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat. Genet. 24, 266-270 (2000).
    • (2000) Nat. Genet. , vol.24 , pp. 266-270
    • Nichols, K.E.1
  • 17
    • 4444307411 scopus 로고    scopus 로고
    • Mouse development and cell proliferation in the absence of D-cyclins
    • Kozar, K., et al. Mouse development and cell proliferation in the absence of D-cyclins. Cell 118, 477-491 (2004).
    • (2004) Cell , vol.118 , pp. 477-491
    • Kozar, K.1
  • 18
    • 84866600774 scopus 로고    scopus 로고
    • Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number
    • Sankaran, V.G., et al. Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. Genes Dev. 26, 2075-2087 (2012).
    • (2012) Genes Dev. , vol.26 , pp. 2075-2087
    • Sankaran, V.G.1
  • 19
    • 70350644759 scopus 로고    scopus 로고
    • A genome-wide meta-Analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
    • Soranzo, N., et al. A genome-wide meta-Analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat. Genet. 41, 1182-1190 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 1182-1190
    • Soranzo, N.1
  • 20
    • 77649184039 scopus 로고    scopus 로고
    • Genome-wide association study of hematological and biochemical traits in a Japanese population
    • Kamatani, Y., et al. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat. Genet. 42, 210-215 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 210-215
    • Kamatani, Y.1
  • 21
    • 58149163149 scopus 로고    scopus 로고
    • Common variants at 30 loci contribute to polygenic dyslipidemia
    • Kathiresan, S., et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat. Genet. 41, 56-65 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 56-65
    • Kathiresan, S.1
  • 22
    • 77951034342 scopus 로고    scopus 로고
    • Genetic and nongenetic sources of variation in phospholipid transfer protein activity
    • Jarvik, G.P., et al. Genetic and nongenetic sources of variation in phospholipid transfer protein activity. J. Lipid Res. 51, 983-990 (2010).
    • (2010) J. Lipid Res. , vol.51 , pp. 983-990
    • Jarvik, G.P.1
  • 23
    • 79952262430 scopus 로고    scopus 로고
    • Genome-wide association study of coronary heart disease and its risk factors in 8, 090 African Americans: The NHLBI CARe Project
    • Lettre, G., et al. Genome-wide association study of coronary heart disease and its risk factors in 8, 090 African Americans: the NHLBI CARe Project. PLoS Genet. 7, e1001300 (2011).
    • (2011) PLoS Genet. , vol.7 , pp. e1001300
    • Lettre, G.1
  • 24
    • 84857648463 scopus 로고    scopus 로고
    • Genome-wide association study identifies multiple loci influencing human serum metabolite levels
    • Kettunen, J., et al. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. Nat. Genet. 44, 269-276 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 269-276
    • Kettunen, J.1
  • 25
    • 40849137619 scopus 로고    scopus 로고
    • Human phosphorylated CTD-interacting protein, PCIF1, negatively modulates gene expression by RNA polymerase II
    • Hirose, Y., et al. Human phosphorylated CTD-interacting protein, PCIF1, negatively modulates gene expression by RNA polymerase II. Biochem. Biophys. Res. Commun. 369, 449-455 (2008).
    • (2008) Biochem. Biophys. Res. Commun. , vol.369 , pp. 449-455
    • Hirose, Y.1
  • 26
    • 84939205024 scopus 로고    scopus 로고
    • Comparison of DNA methylation profiles in human fetal and adult red blood cell progenitors
    • Lessard, S., Beaudoin, M., Benkirane, K., & Lettre, G. Comparison of DNA methylation profiles in human fetal and adult red blood cell progenitors. Genome Med. 7, 1 (2015).
    • (2015) Genome Med. , vol.7 , pp. 1
    • Lessard, S.1    Beaudoin, M.2    Benkirane, K.3    Lettre, G.4
  • 27
    • 84899527626 scopus 로고    scopus 로고
    • Reprogramming committed murine blood cells to induced hematopoietic stem cells with defined factors
    • Riddell, J., et al. Reprogramming committed murine blood cells to induced hematopoietic stem cells with defined factors. Cell 157, 549-564 (2014).
    • (2014) Cell , vol.157 , pp. 549-564
    • Riddell, J.1
  • 28
    • 84891691316 scopus 로고    scopus 로고
    • Nfix is a novel regulator of murine hematopoietic stem and progenitor cell survival
    • Holmfeldt, P., et al. Nfix is a novel regulator of murine hematopoietic stem and progenitor cell survival. Blood 122, 2987-2996 (2013).
    • (2013) Blood , vol.122 , pp. 2987-2996
    • Holmfeldt, P.1
  • 29
    • 0035947178 scopus 로고    scopus 로고
    • Requirement of DNase II for definitive erythropoiesis in the mouse fetal liver
    • Kawane, K., et al. Requirement of DNase II for definitive erythropoiesis in the mouse fetal liver. Science 292, 1546-1549 (2001).
    • (2001) Science , vol.292 , pp. 1546-1549
    • Kawane, K.1
  • 30
    • 80053618140 scopus 로고    scopus 로고
    • Klf1 affects DNase IIa expression in the central macrophage of a fetal liver erythroblastic island: A non-cell-Autonomous role in definitive erythropoiesis
    • Porcu, S., et al. Klf1 affects DNase IIa expression in the central macrophage of a fetal liver erythroblastic island: a non-cell-Autonomous role in definitive erythropoiesis. Mol. Cell. Biol. 31, 4144-4154 (2011).
    • (2011) Mol. Cell. Biol. , vol.31 , pp. 4144-4154
    • Porcu, S.1
  • 31
    • 77956630402 scopus 로고    scopus 로고
    • KLF1 regulates BCL11A expression and γ-Do b-globin gene switching
    • Zhou, D., Liu, K., Sun, C.-W., Pawlik, K.M., & Townes, T.M. KLF1 regulates BCL11A expression and γ-Do b-globin gene switching. Nat. Genet. 42, 742-744 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 742-744
    • Zhou, D.1    Liu, K.2    Sun, C.-W.3    Pawlik, K.M.4    Townes, T.M.5
  • 32
    • 80052153840 scopus 로고    scopus 로고
    • The multifunctional role of EKLF/KLF1 during erythropoiesis
    • Siatecka, M., & Bieker, J.J. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood 118, 2044-2054 (2011).
    • (2011) Blood , vol.118 , pp. 2044-2054
    • Siatecka, M.1    Bieker, J.J.2
  • 33
    • 79955738088 scopus 로고    scopus 로고
    • Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin
    • Satta, S., et al. Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin. Haematologica 96, 767-770 (2011).
    • (2011) Haematologica , vol.96 , pp. 767-770
    • Satta, S.1
  • 34
    • 77956622584 scopus 로고    scopus 로고
    • Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
    • Borg, J., et al. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat. Genet. 42, 801-805 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 801-805
    • Borg, J.1
  • 35
    • 80054845638 scopus 로고    scopus 로고
    • KLF1 gene mutations cause borderline HbA2
    • Perseu, L., et al. KLF1 gene mutations cause borderline HbA2. Blood 118, 4454-4458 (2011).
    • (2011) Blood , vol.118 , pp. 4454-4458
    • Perseu, L.1
  • 36
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • 1000 Genomes Project Consortium.
    • A1000 Genomes Project Consortium. An integrated map of genetic variation from 1, 092 human genomes. Nature 491, 56-65 (2012).
    • (2012) Nature , vol.491 , pp. 56-65
  • 37
    • 11144358198 scopus 로고    scopus 로고
    • A gene atlas of the mouse and human protein-encoding transcriptomes
    • Su, A.I., et al. A gene atlas of the mouse and human protein-encoding transcriptomes. Proc. Natl. Acad. Sci. USA 101, 6062-6067 (2004).
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 6062-6067
    • Su, A.I.1
  • 38
    • 0034069495 scopus 로고    scopus 로고
    • Gene ontology: Tool for the unification of biology
    • Ashburner, M., et al. Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat. Genet. 25, 25-29 (2000).
    • (2000) The Gene Ontology Consortium. Nat. Genet. , vol.25 , pp. 25-29
    • Ashburner, M.1
  • 39
    • 67651205715 scopus 로고    scopus 로고
    • Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions
    • Raychaudhuri, S., et al. Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet. 5, e1000534 (2009).
    • (2009) PLoS Genet. , vol.5 , pp. e1000534
    • Raychaudhuri, S.1
  • 40
    • 0032037890 scopus 로고    scopus 로고
    • The NF-E2 transcription factor
    • Andrews, N.C. The NF-E2 transcription factor. Int. J. Biochem. Cell Biol. 30, 429-432 (1998).
    • (1998) Int. J. Biochem. Cell Biol. , vol.30 , pp. 429-432
    • Andrews, N.C.1
  • 41
    • 84857613938 scopus 로고    scopus 로고
    • Androglobin: A chimeric globin in metazoans that is preferentially expressed in Mammalian testes
    • Hoogewijs, D., et al. Androglobin: a chimeric globin in metazoans that is preferentially expressed in Mammalian testes. Mol. Biol. Evol. 29, 1105-1114 (2012).
    • (2012) Mol. Biol. Evol. , vol.29 , pp. 1105-1114
    • Hoogewijs, D.1
  • 44
    • 33751293605 scopus 로고    scopus 로고
    • Mechanism for fetal hemoglobin induction by histone deacetylase inhibitors involves γ-globin activation by CREB1 and ATF-2
    • Sangerman, J., et al. Mechanism for fetal hemoglobin induction by histone deacetylase inhibitors involves γ-globin activation by CREB1 and ATF-2. Blood 108, 3590-3599 (2006).
    • (2006) Blood , vol.108 , pp. 3590-3599
    • Sangerman, J.1
  • 45
    • 23744509914 scopus 로고    scopus 로고
    • A newly discovered human a-globin gene
    • Goh, S.-H., et al. A newly discovered human a-globin gene. Blood 106, 1466-1472 (2005).
    • (2005) Blood , vol.106 , pp. 1466-1472
    • Goh, S.-H.1
  • 46
    • 79955977896 scopus 로고    scopus 로고
    • A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
    • Farrell, J.J., et al. A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood 117, 4935-4945 (2011).
    • (2011) Blood , vol.117 , pp. 4935-4945
    • Farrell, J.J.1
  • 47
    • 84897568562 scopus 로고    scopus 로고
    • HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers
    • Stadhouders, R., et al. HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J. Clin. Invest. 124, 1699-1710 (2014).
    • (2014) J. Clin. Invest. , vol.124 , pp. 1699-1710
    • Stadhouders, R.1
  • 48
    • 77956637896 scopus 로고    scopus 로고
    • Genetics and beyond-Dhe transcriptome of human monocytes and disease susceptibility
    • Zeller, T., et al. Genetics and beyond-Dhe transcriptome of human monocytes and disease susceptibility. PLoS ONE 5, e10693 (2010).
    • (2010) PLoS ONE , vol.5 , pp. e10693
    • Zeller, T.1
  • 49
    • 79955518530 scopus 로고    scopus 로고
    • Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients
    • Bhatnagar, P., et al. Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. J. Hum. Genet. 56, 316-323 (2011).
    • (2011) J. Hum. Genet. , vol.56 , pp. 316-323
    • Bhatnagar, P.1
  • 50
    • 78751636534 scopus 로고    scopus 로고
    • Update on fetal hemoglobin gene regulation in hemoglobinopathies
    • Bauer, D.E., & Orkin, S.H. Update on fetal hemoglobin gene regulation in hemoglobinopathies. Curr. Opin. Pediatr. 23, 1-8 (2011).
    • (2011) Curr. Opin. Pediatr. , vol.23 , pp. 1-8
    • Bauer, D.E.1    Orkin, S.H.2
  • 51
    • 84885620722 scopus 로고    scopus 로고
    • An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level
    • Bauer, D.E., et al. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 342, 253-257 (2013).
    • (2013) Science , vol.342 , pp. 253-257
    • Bauer, D.E.1
  • 52
    • 84890172667 scopus 로고    scopus 로고
    • Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-Associated variants in distal regulatory elements
    • Grundberg, E., et al. Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-Associated variants in distal regulatory elements. Am. J. Hum. Genet. 93, 876-890 (2013).
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 876-890
    • Grundberg, E.1
  • 53
    • 84891771466 scopus 로고    scopus 로고
    • The UCSC Genome Browser database: 2014 update
    • Karolchik, D., et al. The UCSC Genome Browser database: 2014 update. Nucleic Acids Res. 42, D764-D770 (2014).
    • (2014) Nucleic Acids Res. , vol.42 , pp. D764-D770
    • Karolchik, D.1
  • 54
    • 84875945705 scopus 로고    scopus 로고
    • ENCODE data in the UCSC Genome Browser: Year 5 update
    • Rosenbloom, K.R., et al. ENCODE data in the UCSC Genome Browser: year 5 update. Nucleic Acids Res. 41, D56-D63 (2013).
    • (2013) Nucleic Acids Res. , vol.41 , pp. D56-D63
    • Rosenbloom, K.R.1
  • 55
    • 0025925290 scopus 로고
    • Hemoglobin A2: Origin, evolution, and aftermath
    • Steinberg, M.H., & Adams, J.G. Hemoglobin A2: origin, evolution, and aftermath. Blood 78, 2165-2177 (1991).
    • (1991) Blood , vol.78 , pp. 2165-2177
    • Steinberg, M.H.1    Adams, J.G.2
  • 56
    • 84930868547 scopus 로고    scopus 로고
    • Rare variant genotype imputation with thousands of study-specific whole-genome sequences: Implications for cost-effective study designs
    • Pistis, G., et al. Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs. Eur. J. Hum. Genet. 23, 975-983 (2015).
    • (2015) Eur. J. Hum. Genet. , vol.23 , pp. 975-983
    • Pistis, G.1
  • 57
    • 84867293769 scopus 로고    scopus 로고
    • ZCall: A rare variant caller for array-based genotyping: Genetics and population analysis
    • Goldstein, J.I., et al. zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics 28, 2543-2545 (2012).
    • (2012) Bioinformatics , vol.28 , pp. 2543-2545
    • Goldstein, J.I.1
  • 58
    • 78649508578 scopus 로고    scopus 로고
    • MaCH: Using sequence and genotype data to estimate haplotypes and unobserved genotypes
    • Li, Y., Willer, C.J., Ding, J., Scheet, P., & Abecasis, G.R. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 34, 816-834 (2010).
    • (2010) Genet. Epidemiol. , vol.34 , pp. 816-834
    • Li, Y.1    Willer, C.J.2    Ding, J.3    Scheet, P.4    Abecasis, G.R.5
  • 59
    • 84864417548 scopus 로고    scopus 로고
    • Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
    • Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G.R. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat. Genet. 44, 955-959 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 955-959
    • Howie, B.1    Fuchsberger, C.2    Stephens, M.3    Marchini, J.4    Abecasis, G.R.5
  • 60
    • 77950301214 scopus 로고    scopus 로고
    • Variance component model to account for sample structure in genome-wide association studies
    • Kang, H.M., et al. Variance component model to account for sample structure in genome-wide association studies. Nat. Genet. 42, 348-354 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 348-354
    • Kang, H.M.1
  • 61
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis, G.R., Cherny, S.S., Cookson, W.O., & Cardon, L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30, 97-101 (2002).
    • (2002) Nat. Genet. , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 63
    • 84888350656 scopus 로고    scopus 로고
    • Complexity of the a-globin genotypes identified with thalassemia screening in Sardinia
    • Origa, R., et al. Complexity of the a-globin genotypes identified with thalassemia screening in Sardinia. Blood Cells Mol. Dis. 52, 46-49 (2014).
    • (2014) Blood Cells Mol. Dis. , vol.52 , pp. 46-49
    • Origa, R.1
  • 64
    • 84857467976 scopus 로고    scopus 로고
    • A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation
    • Naitza, S., et al. A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. PLoS Genet. 8, e1002480 (2012).
    • (2012) PLoS Genet. , vol.8 , pp. e1002480
    • Naitza, S.1
  • 65
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie, B.N., Donnelly, P., & Marchini, J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5, e1000529 (2009).
    • (2009) PLoS Genet. , vol.5 , pp. e1000529
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 66
    • 34748864128 scopus 로고    scopus 로고
    • A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
    • Menzel, S., et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat. Genet. 39, 1197-1199 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 1197-1199
    • Menzel, S.1
  • 67
    • 36549053104 scopus 로고    scopus 로고
    • A survey of genetic human cortical gene expression
    • Myers, A.J., et al. A survey of genetic human cortical gene expression. Nat. Genet. 39, 1494-1499 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 1494-1499
    • Myers, A.J.1
  • 68
    • 34548738566 scopus 로고    scopus 로고
    • Population genomics of human gene expression
    • Stranger, B.E., et al. Population genomics of human gene expression. Nat. Genet. 39, 1217-1224 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 1217-1224
    • Stranger, B.E.1
  • 69
    • 55449112450 scopus 로고    scopus 로고
    • High-resolution mapping of expression-QTLs yields insight into human gene regulation
    • Veyrieras, J.-B., et al. High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet. 4, e1000214 (2008).
    • (2008) PLoS Genet. , vol.4 , pp. e1000214
    • Veyrieras, J.-B.1
  • 70
    • 69949176863 scopus 로고    scopus 로고
    • Common regulatory variation impacts gene expression in a cell type-dependent manner
    • Dimas, A.S., et al. Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 325, 1246-1250 (2009).
    • (2009) Science , vol.325 , pp. 1246-1250
    • Dimas, A.S.1
  • 71
    • 77950460661 scopus 로고    scopus 로고
    • Understanding mechanisms underlying human gene expression variation with RNA sequencing
    • Pickrell, J.K., et al. Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 464, 768-772 (2010).
    • (2010) Nature , vol.464 , pp. 768-772
    • Pickrell, J.K.1
  • 72
    • 80052322958 scopus 로고    scopus 로고
    • Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA
    • Fehrmann, R.S.N. Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet. 7, e1002197 (2011).
    • (2011) PLoS Genet. , vol.7 , pp. e1002197
    • Fehrmann, R.S.N.1
  • 73
    • 79957993750 scopus 로고    scopus 로고
    • Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue
    • Innocenti, F., et al. Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet. 7, e1002078 (2011).
    • (2011) PLoS Genet. , vol.7 , pp. e1002078
    • Innocenti, F.1
  • 75
    • 84857111200 scopus 로고    scopus 로고
    • DNaseI sensitivity QTLs are a major determinant of human expression variation
    • Degner, J.F., et al. DNaseI sensitivity QTLs are a major determinant of human expression variation. Nature 482, 390-394 (2012).
    • (2012) Nature , vol.482 , pp. 390-394
    • Degner, J.F.1
  • 76
    • 84856321864 scopus 로고    scopus 로고
    • Dissecting the regulatory architecture of gene expression QTLs
    • Gaffney, D.J., et al. Dissecting the regulatory architecture of gene expression QTLs. Genome Biol. 13, R7 (2012).
    • (2012) Genome Biol. , vol.13 , pp. R7
    • Gaffney, D.J.1
  • 77
    • 84856754865 scopus 로고    scopus 로고
    • Computational tools for discovery and interpretation of expression quantitative trait loci
    • Wright, F.A., Shabalin, A.A., & Rusyn, I. Computational tools for discovery and interpretation of expression quantitative trait loci. Pharmacogenomics 13, 343-352 (2012).
    • (2012) Pharmacogenomics , vol.13 , pp. 343-352
    • Wright, F.A.1    Shabalin, A.A.2    Rusyn, I.3
  • 78
    • 84885645853 scopus 로고    scopus 로고
    • Transcriptome and genome sequencing uncovers functional variation in humans
    • Lappalainen, T., et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501, 506-511 (2013).
    • (2013) Nature , vol.501 , pp. 506-511
    • Lappalainen, T.1
  • 79
    • 84885018609 scopus 로고    scopus 로고
    • Systematic identification of trans eQTLs as putative drivers of known disease associations
    • Westra, H.-J., et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat. Genet. 45, 1238-1243 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1238-1243
    • Westra, H.-J.1
  • 80
    • 84891685308 scopus 로고    scopus 로고
    • Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals
    • Battle, A., et al. Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. Genome Res. 24, 14-24 (2014).
    • (2014) Genome Res. , vol.24 , pp. 14-24
    • Battle, A.1
  • 81
    • 84896742056 scopus 로고    scopus 로고
    • Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression
    • Fairfax, B.P., et al. Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression. Science 343, 1246949 (2014).
    • (2014) Science , vol.343 , pp. 1246949
    • Fairfax, B.P.1
  • 82
    • 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


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