Extended Blood Group Molecular Typing and Next-Generation Sequencing

Transfusion Medicine Reviews

Volumn 28, Issue 4, 2014, Pages 177-186

  Liu, Zhugong ^a   Liu, Meihong ^a   Mercado, Teresita ^a   Illoh, Orieji ^a   Davey, Richard ^a  

^a CENTER FOR DRUG EVALUATION AND RESEARCH   (United States)

Author keywords

Blood group genotyping; Blood group phenotype; Molecular assay; Next generation sequencing; Target enrichment

Indexed keywords

BLOOD GROUP ANTIGEN; GENOMIC DNA; ALLOANTIBODY; HLA ANTIGEN;

BLOOD DONOR; BLOOD GROUP TYPING; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPING TECHNIQUE; HUMAN; INDEL MUTATION; MOLECULAR TYPING; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; RECIPIENT; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; CHEMISTRY; FACTUAL DATABASE; GENE DELETION; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; PROCEDURES;

BLOOD GROUP ANTIGENS; BLOOD GROUPING AND CROSSMATCHING; DATABASES, FACTUAL; GENE DELETION; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HLA ANTIGENS; HUMANS; ISOANTIBODIES; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84922276775     PISSN: 08877963     EISSN: 15329496     Source Type: Journal    
DOI: 10.1016/j.tmrv.2014.08.003     Document Type: Review

References (118)

1. Hopp K., Weber K., Bellissimo D., Johnson S.T., Pietz B. High-throughput red blood cell antigen genotyping using a nanofluidic real-time polymerase chain reaction platform. Transfusion 2010, 50:40-46.
2. Avent N.D., Martinez A., Flegel W.A., Olsson M.L., Scott M.L., Nogues N., et al. The Bloodgen Project of the European Union, 2003-2009. Transfus Med Hemother 2009, 36:162-167.
3. Hashmi G., Shariff T., Seul M., Vissavajjhala P., Hue-Roye K., Charles-Pierre D., et al. A flexible array format for large-scale, rapid blood group DNA typing. Transfusion 2005, 45:680-688.
4. Bugert P., McBride S., Smith G., Dugrillon A., Kluter H., Ouwehand W.H., et al. Microarray-based genotyping for blood groups: comparison of gene array and 5'-nuclease assay techniques with human platelet antigen as a model. Transfusion 2005, 45:654-659.
5. Denomme G.A., Van Oene M. High-throughput multiplex single-nucleotide polymorphism analysis for red cell and platelet antigen genotypes. Transfusion 2005, 45:660-666.
6. Beiboer S.H., Wieringa-Jelsma T., Maaskant-Van Wijk P.A., van der Schoot C.E., van Zwieten R., Roos D., et al. Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization. Transfusion 2005, 45:667-679.
7. Reid M.E., Denomme G.A. DNA-based methods in the immunohematology reference laboratory. Transfus Apher Sci 2011, 44:65-72.
8. Jungbauer C., Hobel C.M., Schwartz D.W., Mayr W.R. High-throughput multiplex PCR genotyping for 35 red blood cell antigens in blood donors. Vox Sang 2012, 102:234-242.
9. Sanger F., Nicklen S., Coulson A.R. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 1977, 74:5463-5467.
10. Mamanova L., Coffey A.J., Scott C.E., Kozarewa I., Turner E.H., Kumar A., et al. Target-enrichment strategies for next-generation sequencing. Nat Methods 2010, 7:111-118.
11. Miller M.B., Tang Y.W. Basic concepts of microarrays and potential applications in clinical microbiology. Clin Microbiol Rev 2009, 22:611-633.
12. Avent N.D. Large scale blood group genotyping. Transfus Clin Biol 2007, 14:10-15.
13. Klapper E., Zhang Y., Figueroa P., Ness P., Stubbs J., Abumuhor I., et al. Toward extended phenotype matching: a new operational paradigm for the transfusion service. Transfusion 2010, 50:536-546.
14. Kappler-Gratias S., Peyrard T., Beolet M., Amiranoff D., Menanteau C., Dubeaux I., et al. Blood group genotyping by high-throughput DNA analysis applied to 356 reagent red blood cell samples. Transfusion 2011, 51:36-42.
15. Dunbar S.A. Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection. Clin Chim Acta 2006, 363:71-82.
16. Drago F., Karpasitou K., Spinardi L., Crespiatico L., Scalamogna M., Poli F. A microsphere-based suspension array for blood group molecular typing: an update. Transfus Med Hemother 2010, 37:336-338.
17. Veldhuisen B., van der Schoot C.E., de Haas M. Blood group genotyping: from patient to high-throughput donor screening. Vox Sang 2009, 97:198-206.
18. Daniels G., van der Schoot C.E., Olsson M.L. Report of the fourth International Workshop on molecular blood group genotyping. Vox Sang 2011, 101:327-332.
19. Daniels G., van der Schoot C.E., Gassner C., Olsson M.L. Report of the third international workshop on molecular blood group genotyping. Vox Sang 2009, 96:337-343.
20. Daniels G., van der Schoot C.E., Olsson M.L. Report of the Second International Workshop on molecular blood group genotyping. Vox Sang 2007, 93:83-88.
21. Daniels G., van der Schoot C.E., Olsson M.L. Report of the First International Workshop on molecular blood group genotyping. Vox Sang 2005, 88:136-142.
22. Flegel W.A., Chiosea I., Sachs U.J., Bein G. External quality assessment in molecular immunohematology: the INSTAND proficiency test program. Transfusion 2013, 53:2850-2858.
23. Lasalle-Williams M., Nuss R., Le T., Cole L., Hassell K., Murphy J.R., et al. Extended red blood cell antigen matching for transfusions in sickle cell disease: a review of a 14-year experience from a single center (CME). Transfusion 2011, 51:1732-1739.
24. Castilho L., Rios M., Bianco C., Pellegrino J., Alberto F.L., Saad S.T., et al. DNA-based typing of blood groups for the management of multiply-transfused sickle cell disease patients. Transfusion 2002, 42:232-238.
25. Ribeiro K.R., Guarnieri M.H., da Costa D.C., Costa F.F., Pellegrino J., Castilho L. DNA array analysis for red blood cell antigens facilitates the transfusion support with antigen-matched blood in patients with sickle cell disease. Vox Sang 2009, 97:147-152.
26. Wilkinson K., Harris S., Gaur P., Haile A., Armour R., Teramura G., et al. Molecular blood typing augments serologic testing and allows for enhanced matching of red blood cells for transfusion in patients with sickle cell disease. Transfusion 2012, 52:381-388.
27. Denomme G.A., Johnson S.T., Pietz B.C. Mass-scale red cell genotyping of blood donors. Transfus Apher Sci 2011, 44:93-99.
28. Wagner F.F. Molecular testing in transfusion medicine. Expert Opin Med Diagn 2010, 4:411-428.
29. Medicine Quill E. Blood-matching goes genetic. Science 2008, 319:1478-1479.
30. Rujirojindakul P., Flegel W.A. Applying molecular immunohaematology to regularly transfused thalassaemic patients in Thailand. Blood Transfus 2014, 12:28-35.
31. van der Schoot C.E., Veldhuisen B., de Haas M. Will genotyping replace serology in future routine blood grouping?-Opinion 5. Transfus Med Hemother 2009, 36:234-235.
32. Matteocci A., Pierelli L. Red blood cell alloimmunization in sickle cell disease and in thalassaemia: current status, future perspectives and potential role of molecular typing. Vox Sang 2014, 106:197-208.
33. Fichou Y., Le Marechal C., Bryckaert L., Guerry C., Benech C., Dupont I., et al. Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles. Transfusion 2012, 52:759-764.
34. Chou S.T., Jackson T., Vege S., Smith-Whitley K., Friedman D.F., Westhoff C.M. High prevalence of red blood cell alloimmunization in sickle cell disease despite transfusion from Rh-matched minority donors. Blood 2013, 122:1062-1071.
35. Westman J.S., Hellberg A., Peyrard T., Hustinx H., Thuresson B., Olsson M.L. P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems. Transfusion 2013, 53:2928-2939.
36. Velliquette R.W., Hue-Roye K., Lomas-Francis C., Gillen B., Schierts J., Gentzkow K., et al. Molecular basis of two novel and related high-prevalence antigens in the Kell blood group system, KUCI and KANT, and their serologic and spatial association with K11 and KETI. Transfusion 2013, 53:2872-2881.
37. Storry J.R., Joud M., Christophersen M.K., Thuresson B., Akerstrom B., Sojka B.N., et al. Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype. Nat Genet 2013, 45:537-541.
38. Flegel W.A. Rare gems: null phenotypes of blood groups. Blood Transfus 2010, 8:2-4.
39. Livingstone F.B. The Duffy blood groups, vivax malaria, and malaria selection in human populations: a review. Hum Biol 1984, 56:413-425.
40. Tournamille C., Colin Y., Cartron J.P., Le Van Kim C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat Genet 1995, 10:224-228.
41. Cvejic A., Haer-Wigman L., Stephens J.C., Kostadima M., Smethurst P.A., Frontini M., et al. SMIM1 underlies the Vel blood group and influences red blood cell traits. Nat Genet 2013, 45:542-545.
42. Ballif B.A., Helias V., Peyrard T., Menanteau C., Saison C., Lucien N., et al. Disruption of SMIM1 causes the Vel- blood type. EMBO Mol Med 2013, 5:751-761.
43. Horn T., Castilho L., Moulds J.M., Billingsley K., Vege S., Johnson N., et al. A novel JKA allele, nt561C>A, associated with silencing of Kidd expression. Transfusion 2012, 52:1092-1096.
44. Mayer B., Thornton N., Yurek S., Wylie D., Hue-Roye K., Poole J., et al. New antigen in the Dombrock blood group system, DOYA, ablates expression of Do(a) and weakens expression of Hy, Jo(a), and Gy(a) antigens. Transfusion 2010, 50:1295-1302.
45. Costa F.P., Hue-Roye K., Sausais L., Velliquette R.W., Da Costa Ferreira E., Lomas-Francis C., et al. Absence of DOMR, a new antigen in the Dombrock blood group system that weakens expression of Do(b), Gy(a), Hy, Jo(a), and DOYA antigens. Transfusion 2010, 50:2026-2031.
46. Metzker M.L. Sequencing technologies-the next generation. Nat Rev Genet 2010, 11:31-46.
47. Head S.R., Komori H.K., Lamere S.A., Whisenant T., Van Nieuwerburgh F., Salomon D.R., et al. Library construction for next-generation sequencing: overviews and challenges. Biotechniques 2014, 56:61-77.
48. van Dijk E.L., Jaszczyszyn Y., Thermes C. Library preparation methods for next-generation sequencing: tone down the bias. Exp Cell Res 2014, 322:12-20.
49. Ozcelik H., Shi X., Chang M.C., Tram E., Vlasschaert M., Di Nicola N., et al. Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer. J Mol Diagn 2012, 14:467-475.
50. Meuzelaar L.S., Lancaster O., Pasche J.P., Kopal G., Brookes A.J. MegaPlex PCR: a strategy for multiplex amplification. Nat Methods 2007, 4:835-837.
51. Fredriksson S., Baner J., Dahl F., Chu A., Ji H., Welch K., et al. Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector. Nucleic Acids Res 2007, 35:1-6. e47.
52. Moonsamy P.V., Williams T., Bonella P., Holcomb C.L., Hoglund B.N., Hillman G., et al. High throughput HLA genotyping using 454 sequencing and the Fluidigm Access Array System for simplified amplicon library preparation. Tissue Antigens 2013, 81:141-149.
53. Tewhey R., Warner J.B., Nakano M., Libby B., Medkova M., David P.H., et al. Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol 2009, 27:1025-1031.
54. Hodges E., Xuan Z., Balija V., Kramer M., Molla M.N., Smith S.W., et al. Genome-wide in situ exon capture for selective resequencing. Nat Genet 2007, 39:1522-1527.
55. Okou D.T., Steinberg K.M., Middle C., Cutler D.J., Albert T.J., Zwick M.E. Microarray-based genomic selection for high-throughput resequencing. Nat Methods 2007, 4:907-909.
56. Albert T.J., Molla M.N., Muzny D.M., Nazareth L., Wheeler D., Song X., et al. Direct selection of human genomic loci by microarray hybridization. Nat Methods 2007, 4:903-905.
57. Zhou Q., Yang D., Ombrello A.K., Zavialov A.V., Toro C., Zavialov A.V., et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014, 370:911-920.
58. Clark M.J., Chen R., Lam H.Y., Karczewski K.J., Chen R., Euskirchen G., et al. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol 2011, 29:908-914.
59. Asan, Xu Y., Jiang H., Tyler-Smith C., Xue Y., Jiang T., et al. Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol 2011, 12:1-12. R95.
60. Teer J.K., Bonnycastle L.L., Chines P.S., Hansen N.F., Aoyama N., Swift A.J., et al. Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res 2010, 20:1420-1431.
61. Porreca G.J., Zhang K., Li J.B., Xie B., Austin D., Vassallo S.L., et al. Multiplex amplification of large sets of human exons. Nat Methods 2007, 4:931-936.
62. Turner E.H., Lee C., Ng S.B., Nickerson D.A., Shendure J. Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods 2009, 6:315-316.
63. O'Roak B.J., Vives L., Fu W., Egertson J.D., Stanaway I.B., Phelps I.G., et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012, 338:1619-1622.
64. Berglund E.C., Lindqvist C.M., Hayat S., Overnas E., Henriksson N., Nordlund J., et al. Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment. BMC Genomics 2013, 14:1-11. 856.
65. Meyer M., Stenzel U., Myles S., Prufer K., Hofreiter M. Targeted high-throughput sequencing of tagged nucleic acid samples. Nucleic Acids Res 2007, 35:1-5. e97.
66. Parameswaran P., Jalili R., Tao L., Shokralla S., Gharizadeh B., Ronaghi M., et al. A pyrosequencing-tailored nucleotide barcode design unveils opportunities for large-scale sample multiplexing. Nucleic Acids Res 2007, 35:1-9. e130.
67. Tu J., Ge Q., Wang S., Wang L., Sun B., Yang Q., et al. Pair-barcode high-throughput sequencing for large-scale multiplexed sample analysis. BMC Genomics 2012, 13:1-9. 43.
68. Van Nieuwerburgh F., Soetaert S., Podshivalova K., Ay-Lin Wang E., Schaffer L., Deforce D., et al. Quantitative bias in Illumina TruSeq and a novel post amplification barcoding strategy for multiplexed DNA and small RNA deep sequencing. PLoS One 2011, 6:1-6. e26969.
69. Iossifov I., Ronemus M., Levy D., Wang Z., Hakker I., Rosenbaum J., et al. De novo gene disruptions in children on the autistic spectrum. Neuron 2012, 74:285-299.
70. Sanders S.J., Murtha M.T., Gupta A.R., Murdoch J.D., Raubeson M.J., Willsey A.J., et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:237-241.
71. O'Roak B.J., Vives L., Girirajan S., Karakoc E., Krumm N., Coe B.P., et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485:246-250.
72. Muers M. Human genetics: fruits of exome sequencing for autism. Nat Rev Genet 2012, 13:377.
73. Neale B.M., Kou Y., Liu L., Ma'ayan A., Samocha K.E., Sabo A., et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012, 485:242-245.
74. Chahrour M.H., Yu T.W., Lim E.T., Ataman B., Coulter M.E., Hill R.S., et al. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet 2012, 8:1-9. e1002635.
75. Van Allen E.M., Wagle N., Stojanov P., Perrin D.L., Cibulskis K., Marlow S., et al. Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nat Med 2014, 20:682-688.
76. Zhao Q., Kirkness E.F., Caballero O.L., Galante P.A., Parmigiani R.B., Edsall L., et al. Systematic detection of putative tumor suppressor genes through the combined use of exome and transcriptome sequencing. Genome Biol 2010, 11:1-14. R114.
77. Harbour J.W., Onken M.D., Roberson E.D., Duan S., Cao L., Worley L.A., et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010, 330:1410-1413.
78. Jiao Y., Shi C., Edil B.H., de Wilde R.F., Klimstra D.S., Maitra A., et al. DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 2011, 331:1199-1203.
79. Kan Z., Jaiswal B.S., Stinson J., Janakiraman V., Bhatt D., Stern H.M., et al. Diverse somatic mutation patterns and pathway alterations in human cancers. Nature 2010, 466:869-873.
80. Byun M., Abhyankar A., Lelarge V., Plancoulaine S., Palanduz A., Telhan L., et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med 2010, 207:2307-2312.
81. Comino-Mendez I., Gracia-Aznarez F.J., Schiavi F., Landa I., Leandro-Garcia L.J., Leton R., et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 2011, 43:663-667.
82. Iacobuzio-Donahue C.A., Velculescu V.E., Wolfgang C.L., Hruban R.H. Genetic basis of pancreas cancer development and progression: insights from whole-exome and whole-genome sequencing. Clin Cancer Res 2012, 18:4257-4265.
83. Chang V.Y., Basso G., Sakamoto K.M., Nelson S.F. Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia. BMC Cancer 2013, 13:1-6. 55.
84. Tzoneva G., Perez-Garcia A., Carpenter Z., Khiabanian H., Tosello V., Allegretta M., et al. Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL. Nat Med 2013, 19:368-371.
85. Shiina T., Suzuki S., Ozaki Y., Taira H., Kikkawa E., Shigenari A., et al. Super high resolution for single molecule-sequence-based typing of classical HLA loci at the 8-digit level using next generation sequencers. Tissue Antigens 2012, 80:305-316.
86. Gabriel C., Stabentheiner S., Danzer M., Proll J. What next? The next transit from biology to diagnostics: next generation sequencing for immunogenetics. Transfus Med Hemother 2011, 38:308-317.
87. Erlich H. HLA DNA, typing: past, present, and future. Tissue Antigens 2012, 80:1-11.
88. Gabriel C., Danzer M., Hackl C., Kopal G., Hufnagl P., Hofer K., et al. Rapid high-throughput human leukocyte antigen typing by massively parallel pyrosequencing for high-resolution allele identification. Hum Immunol 2009, 70:960-964.
89. Bentley G., Higuchi R., Hoglund B., Goodridge D., Sayer D., Trachtenberg E.A., et al. High-resolution, high-throughput HLA genotyping by next-generation sequencing. Tissue Antigens 2009, 74:393-403.
90. Lank S.M., Golbach B.A., Creager H.M., Wiseman R.W., Keskin D.B., Reinherz E.L., et al. Ultra-high resolution HLA genotyping and allele discovery by highly multiplexed cDNA amplicon pyrosequencing. BMC Genomics 2012, 13:1-13. 378.
91. Lank S.M., Wiseman R.W., Dudley D.M., O'Connor D.H. A novel single cDNA amplicon pyrosequencing method for high-throughput, cost-effective sequence-based HLA class I genotyping. Hum Immunol 2010, 71:1011-1017.
92. Lind C., Ferriola D., Mackiewicz K., Heron S., Rogers M., Slavich L., et al. Next-generation sequencing: the solution for high-resolution, unambiguous human leukocyte antigen typing. Hum Immunol 2010, 71:1033-1042.
93. Wang C., Krishnakumar S., Wilhelmy J., Babrzadeh F., Stepanyan L., Su L.F., et al. High-throughput, high-fidelity HLA genotyping with deep sequencing. Proc Natl Acad Sci U S A 2012, 109:8676-8681.
94. Sulonen A.M., Ellonen P., Almusa H., Lepisto M., Eldfors S., Hannula S., et al. Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol 2011, 12:1-18. R94.
95. Bell C.J., Dinwiddie D.L., Miller N.A., Hateley S.L., Ganusova E.E., Mudge J., et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011, 3:1-14. 65ra4.
96. de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012, 367:1921-1929.
97. Tyson J., Armour J.A. Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR. BMC Genomics 2012, 13:1-12. 693.
98. Aird D., Ross M.G., Chen W.S., Danielsson M., Fennell T., Russ C., et al. Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries. Genome Biol 2011, 12:1-14. R18.
99. Nekrutenko A., Taylor J. Next-generation sequencing data interpretation: enhancing reproducibility and accessibility. Nat Rev Genet 2012, 13:667-672.
100. Treangen T.J., Salzberg S.L. Repetitive DNA and next-generation sequencing: computational challenges and solutions. Nat Rev Genet 2012, 13:36-46.
101. Cai X., Jin S., Liu X., Fan L., Lu Q., Wang J., et al. Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles. Transfusion 2013, 53:2910-2916.
102. Gassner C., Utz I., Schennach H., Ramoni A., Steiner H., Scholz S., et al. Novel RHD alleles with weak hemagglutination and genetic Exon 9 diversity: weak D Types 45.1, 75, and 76. Transfusion 2013, 53:2954-2959.
103. Chen J.M., Fichou Y., Jamet D., Dupont I., Cooper D.N., Le Marechal C., et al. Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms. Transfusion 2013, 53:206-210.
104. Reid M.E., Halter Hipsky C., Hue-Roye K., Coghlan G., Olsen C., Lomas-Francis C. The low-prevalence Rh antigen STEM (RH49) is encoded by two different RHCE*ce818T alleles that are often in cis to RHD*DOL. Transfusion 2013, 53:539-544.
105. von Zabern I., Wagner F.F., Moulds J.M., Moulds J.J., Flegel W.A. D category IV: a group of clinically relevant and phylogenetically diverse partial D. Transfusion 2013, 53:2960-2973.
106. Fichou Y., Le Marechal C., Bryckaert L., Dupont I., Jamet D., Chen J.M., et al. A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes. Transfusion 2013, 53:2974-2982.
107. Denomme G.A. Molecular basis of blood group expression. Transfus Apher Sci 2011, 44:53-63.
108. Blancher A., Apoil P.A. Evolution of RH genes in hominoids: characterization of a gorilla RHCE-like gene. J Hered 2000, 91:205-210.
109. Rehm H.L., Bale S.J., Bayrak-Toydemir P., Berg J.S., Brown K.K., Deignan J.L., et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med 2013, 15:733-747.
110. Stabentheiner S., Danzer M., Niklas N., Atzmuller S., Proll J., Hackl C., et al. Overcoming methodical limits of standard RHD genotyping by next-generation sequencing. Vox Sang 2011, 100:381-388.
111. Denomme G.A., Westhoff C.M., Castilho L.M., St-Louis M., Castro V., Reid M.E. Consortium for Blood Group Genes (CBGG): 2009 report. Immunohematology 2010, 26:47-50.
112. Mori A., Deola S., Xumerle L., Mijatovic V., Malerba G., Monsurro V. Next generation sequencing: new tools in immunology and hematology. Blood Res 2013, 48:242-249.
113. Moorthie S., Mattocks C.J., Wright C.F. Review of massively parallel DNA sequencing technologies. Hugo J 2011, 5:1-12.
114. Shendure J., Lieberman Aiden E. The expanding scope of DNA sequencing. Nat Biotechnol 2012, 30:1084-1094.
115. ElSharawy A., Warner J., Olson J., Forster M., Schilhabel M.B., Link D.R., et al. Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing. BMC Genomics 2012, 13:1-15. 500.
116. Liu Q., Guo Y., Li J., Long J., Zhang B., Shyr Y. Steps to ensure accuracy in genotype and SNP calling from Illumina sequencing data. BMC Genomics 2012, 13(Suppl. 8):1-8. S8.
117. Mondal K., Shetty A.C., Patel V., Cutler D.J., Zwick M.E. Targeted sequencing of the human X chromosome exome. Genomics 2011, 98:260-265.
118. de Sousa Dias M., Hernan I., Pascual B., Borras E., Mane B., Gamundi M.J., et al. Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing. Mol Vis 2013, 19:654-664.