publication . Article . 2017

A phased SNP-based classification of sickle cell anemia HBB haplotypes.

Lindsay A. Farrer; Elmutaz Shaikho; Martin Steinberg; paola sebastiani;
Open Access
  • Published: 01 Aug 2017 Journal: BMC Genomics, volume 18 (eissn: 1471-2164, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
  • Country: Brazil
Abstract
Made available in DSpace on 2019-08-19T11:49:45Z (GMT). No. of bitstreams: 0 Previous issue date: 2017. Added 1 bitstream(s) on 2019-09-03T14:06:29Z : No. of bitstreams: 1 WOS000408035900004.pdf: 702553 bytes, checksum: 36acddce925f56d33cf094e9ab3b827d (MD5) NIH Bethesda, MD Background: Sickle cell anemia causes severe complications and premature death. Five common beta-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful. The first method of haplotype classification used restriction fragment length polymorphis...
Subjects
Medical Subject Headings: educationparasitic diseases
free text keywords: Biotechnology, Genetics, Methodology Article, SNPs, Sickle cell, Haplotype classification, TP248.13-248.65, QH426-470
Funded by
NIH| Research Training in Blood Diseases and Resources
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5T32HL007501-23
  • Funding stream: NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
,
NIH| Genetic Modulation of Sickle Cell Anemia
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01HL068970-02
  • Funding stream: NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
20 references, page 1 of 2

Piel, FB, Steinberg, MH, Rees, DC. Sickle cell disease. N Engl J Med. 2017; 376 (16): 1561-1573 [OpenAIRE] [PubMed] [DOI]

Akinsheye, I, Alsultan, A, Solovieff, N, Ngo, D, Baldwin, CT, Sebastiani, P, Chui, DH, Steinberg, MH. Fetal hemoglobin in sickle cell anemia. Blood. 2011; 118 (1): 19-27 [OpenAIRE] [PubMed] [DOI]

Nagel, RL, Fabry, ME, Pagnier, J, Zohoun, I, Wajcman, H, Baudin, V, Labie, D. Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. N Engl J Med. 1985; 312 (14): 880-884 [OpenAIRE] [PubMed] [DOI]

Pagnier, J, Mears, JG, Dunda-Belkhodja, O, Schaefer-Rego, KE, Beldjord, C, Nagel, RL, Labie, D. Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci U S A. 1984; 81 (6): 1771-1773 [OpenAIRE] [PubMed] [DOI]

Perrine, RP, Brown, MJ, Clegg, JB, Weatherall, DJ, May, A. Benign sickle-cell anaemia. Lancet. 1972; 300 (7788): 1163-1167 [DOI]

Powers, DR. Beta s-gene-cluster haplotypes in sickle cell anemia. Clinical and hematologic features. Hematol Oncol Clin North Am. 1991; 5 (3): 475-493 [PubMed]

Sutton, M, Bouhassira, EE, Nagel, RL. Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes. Am J Hematol. 1989; 32 (1): 66-69 [OpenAIRE] [PubMed] [DOI]

Antonarakis, SE, Boehm, CD, Giardina, PJ, Kazazian, HH. Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A. 1982; 79 (1): 137-141 [OpenAIRE] [PubMed] [DOI]

Rezende, PV, Costa, KS, Domingues Junior, JC, Silveira, PB, Belisário, AR, Silva, CM, Viana, MB. Clinical, hematological and genetic data of a cohort of children with hemoglobin SD. Rev Bras Hematol Hemoter. 2016; 38 (3): 240-246 [OpenAIRE] [PubMed] [DOI]

Joly, P, Lacan, P, Garcia, C, Delasaux, A, Francina, A. Rapid and reliable beta-globin gene cluster haplotyping of sickle cell disease patients by FRET light cycler and HRM assays. Clin Chim Acta. 2011; 412 (13-14): 1257-1261 [OpenAIRE] [PubMed] [DOI]

Solovieff, N, Milton, JN, Hartley, SW, Sherva, R, Sebastiani, P, Dworkis, DA, Klings, ES, Farrer, LA, Garrett, ME, Ashley-Koch, A. Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5′ olfactory receptor gene cluster. Blood. 2010; 115 (9): 1815-1822 [OpenAIRE] [PubMed] [DOI]

Purcell, S, Neale, B, Todd-Brown, K, Thomas, L, Ferreira, MA, Bender, D, Maller, J, Sklar, P, de Bakker, PI, Daly, MJ. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81 (3): 559-575 [OpenAIRE] [PubMed] [DOI]

Das, S, Forer, L, Schonherr, S, Sidore, C, Locke, AE, Kwong, A, Vrieze, SI, Chew, EY, Levy, S, McGue, M. Next-generation genotype imputation service and methods. Nat Genet. 2016; 48 (10): 1284-1287 [OpenAIRE] [PubMed] [DOI]

Loh, P-R, Palamara, PF, Price, AL. Fast and accurate long-range phasing in a UK biobank cohort. Nat Genet. 2016; 48 (7): 811-81615 [OpenAIRE] [PubMed] [DOI]

A global reference for human genetic variation. Nature. 2015; 526 (7571): 68-74 [OpenAIRE] [PubMed] [DOI]

20 references, page 1 of 2
Abstract
Made available in DSpace on 2019-08-19T11:49:45Z (GMT). No. of bitstreams: 0 Previous issue date: 2017. Added 1 bitstream(s) on 2019-09-03T14:06:29Z : No. of bitstreams: 1 WOS000408035900004.pdf: 702553 bytes, checksum: 36acddce925f56d33cf094e9ab3b827d (MD5) NIH Bethesda, MD Background: Sickle cell anemia causes severe complications and premature death. Five common beta-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful. The first method of haplotype classification used restriction fragment length polymorphis...
Subjects
Medical Subject Headings: educationparasitic diseases
free text keywords: Biotechnology, Genetics, Methodology Article, SNPs, Sickle cell, Haplotype classification, TP248.13-248.65, QH426-470
Funded by
NIH| Research Training in Blood Diseases and Resources
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5T32HL007501-23
  • Funding stream: NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
,
NIH| Genetic Modulation of Sickle Cell Anemia
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01HL068970-02
  • Funding stream: NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
20 references, page 1 of 2

Piel, FB, Steinberg, MH, Rees, DC. Sickle cell disease. N Engl J Med. 2017; 376 (16): 1561-1573 [OpenAIRE] [PubMed] [DOI]

Akinsheye, I, Alsultan, A, Solovieff, N, Ngo, D, Baldwin, CT, Sebastiani, P, Chui, DH, Steinberg, MH. Fetal hemoglobin in sickle cell anemia. Blood. 2011; 118 (1): 19-27 [OpenAIRE] [PubMed] [DOI]

Nagel, RL, Fabry, ME, Pagnier, J, Zohoun, I, Wajcman, H, Baudin, V, Labie, D. Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. N Engl J Med. 1985; 312 (14): 880-884 [OpenAIRE] [PubMed] [DOI]

Pagnier, J, Mears, JG, Dunda-Belkhodja, O, Schaefer-Rego, KE, Beldjord, C, Nagel, RL, Labie, D. Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci U S A. 1984; 81 (6): 1771-1773 [OpenAIRE] [PubMed] [DOI]

Perrine, RP, Brown, MJ, Clegg, JB, Weatherall, DJ, May, A. Benign sickle-cell anaemia. Lancet. 1972; 300 (7788): 1163-1167 [DOI]

Powers, DR. Beta s-gene-cluster haplotypes in sickle cell anemia. Clinical and hematologic features. Hematol Oncol Clin North Am. 1991; 5 (3): 475-493 [PubMed]

Sutton, M, Bouhassira, EE, Nagel, RL. Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes. Am J Hematol. 1989; 32 (1): 66-69 [OpenAIRE] [PubMed] [DOI]

Antonarakis, SE, Boehm, CD, Giardina, PJ, Kazazian, HH. Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A. 1982; 79 (1): 137-141 [OpenAIRE] [PubMed] [DOI]

Rezende, PV, Costa, KS, Domingues Junior, JC, Silveira, PB, Belisário, AR, Silva, CM, Viana, MB. Clinical, hematological and genetic data of a cohort of children with hemoglobin SD. Rev Bras Hematol Hemoter. 2016; 38 (3): 240-246 [OpenAIRE] [PubMed] [DOI]

Joly, P, Lacan, P, Garcia, C, Delasaux, A, Francina, A. Rapid and reliable beta-globin gene cluster haplotyping of sickle cell disease patients by FRET light cycler and HRM assays. Clin Chim Acta. 2011; 412 (13-14): 1257-1261 [OpenAIRE] [PubMed] [DOI]

Solovieff, N, Milton, JN, Hartley, SW, Sherva, R, Sebastiani, P, Dworkis, DA, Klings, ES, Farrer, LA, Garrett, ME, Ashley-Koch, A. Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5′ olfactory receptor gene cluster. Blood. 2010; 115 (9): 1815-1822 [OpenAIRE] [PubMed] [DOI]

Purcell, S, Neale, B, Todd-Brown, K, Thomas, L, Ferreira, MA, Bender, D, Maller, J, Sklar, P, de Bakker, PI, Daly, MJ. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81 (3): 559-575 [OpenAIRE] [PubMed] [DOI]

Das, S, Forer, L, Schonherr, S, Sidore, C, Locke, AE, Kwong, A, Vrieze, SI, Chew, EY, Levy, S, McGue, M. Next-generation genotype imputation service and methods. Nat Genet. 2016; 48 (10): 1284-1287 [OpenAIRE] [PubMed] [DOI]

Loh, P-R, Palamara, PF, Price, AL. Fast and accurate long-range phasing in a UK biobank cohort. Nat Genet. 2016; 48 (7): 811-81615 [OpenAIRE] [PubMed] [DOI]

A global reference for human genetic variation. Nature. 2015; 526 (7571): 68-74 [OpenAIRE] [PubMed] [DOI]

20 references, page 1 of 2
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