The 18th International HLA & Immunogenetics workshop project report: Creating fully representative MHC reference haplotypes

被引：0

作者：

Pollock, Nicholas R. ^{[1
,2
]}

Farias, Ticiana D. J. ^{[1
,2
]}

Kichula, Katherine M. ^{[1
,2
]}

Sauter, Juergen ^{[3
,4
]}

Scholz, Stephan ^{[5
]}

Nii-Trebi, Nicholas I. ^{[6
]}

Khor, Seik-Soon ^{[7
,8
]}

Tokunaga, Katsushi ^{[7
]}

Voorter, Christina E. ^{[9
]}

Groeneweg, Mathijs ^{[9
]}

Augusto, Danillo G. ^{[10
]}

Arrieta-Bolanos, Esteban ^{[11
,12
]}

Mayor, Neema P. ^{[13
,14
]}

Edinur, Hisham Atan ^{[15
]}

Elghazali, Gehad ^{[16
,17
]}

Issler, Hellen C. ^{[18
]}

Petzl-Erler, Maria Luiza ^{[18
]}

Oksenberg, Jorge R. ^{[19
]}

Marin, Wesley M. ^{[19
]}

Hollenbach, Jill A. ^{[19
,20
]}

Gendzekhadze, Ketevan ^{[21
]}

Cita, Rafael ^{[22
]}

Stelet, Vinicius ^{[23
]}

Rajalingam, Raja ^{[24
]}

Koskela, Satu ^{[25
]}

Clancy, Jonna ^{[25
]}

Chatzistamatiou, Theofanis ^{[26
]}

Houwaart, Torsten ^{[5
]}

Kulski, Jerzy ^{[27
]}

Guethlein, Lisbeth A. ^{[28
,29
]}

Parham, Peter ^{[28
,29
]}

Schmidt, Alexander H. ^{[3
,4
]}

Dilthey, Alexander ^{[5
]}

Norman, Paul J. ^{[1
,2
]}

机构：

[1] Univ Colorado, Sch Med, Dept Biomed Informat, Aurora, CO 80045 USA

[2] Univ Colorado, Sch Med, Dept Immunol & Microbiol, Aurora, CO USA

[3] DKMS Grp, Tubingen, Germany

[4] DKMS Life Sci Lab, Dresden, Germany

[5] Heinrich Heine Univ Dusseldorf, Inst Med Microbiol & Hosp Hygiene, Dusseldorf, Germany

[6] Univ Ghana, Coll Hlth Sci, Sch Biomed & Allied Hlth Sci, Dept Med Lab Sci, Accra, Ghana

[7] Natl Ctr Global Hlth & Med Hosp, Genome Med Sci Project, Tokyo, Japan

[8] Nanyang Technol Univ, Singapore Ctr Environm Life Sci Engn, Singapore, Singapore

[9] Maastricht Univ, Med Ctr, Dept Transplantat Immunol, Tissue Typing Lab, Maastricht, Netherlands

[10] Univ N Carolina, Dept Biol Sci, Charlotte, NC USA

[11] Univ Hosp Essen, Inst Expt Cellular Therapy, Essen, Germany

[12] German Canc Consortium DKTK, Partner Site Essen Dusseldorf, Heidelberg, Germany

[13] Royal Free Hosp, Anthony Nolan Res Inst, London, England

[14] UCL Canc Inst, Royal Free Campus, London, England

[15] Univ Sains Malaysia, Sch Hlth Sci, Kelantan, Malaysia

[16] Purehealth, Immunol Lab, Sheikh Khalifa Med City Purelab, Abu Dhabi, U Arab Emirates

[17] United Arab Emirates Univ, Coll Med & Hlth Sci, Al Ain, U Arab Emirates

[18] Fed Univ Parana UFPR, Dept Genet, Postgrad Program Genet, Lab Human Mol Genet, Curitiba, Brazil

[19] Univ Calif San Francisco, Weill Inst Neurosci, Dept Neurol, San Francisco, CA USA

[20] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA USA

[21] City Hope Natl Med Ctr, Dept Hematol & HCT, HLA Lab, Natl Med Ctr, Duarte, CA USA

[22] Pio XII Fdn, Transplant Immunol Lab, Barretos, Brazil

[23] Natl Canc Inst, Immunogenet Lab, Rio De Janeiro, Brazil

[24] Univ Calif San Francisco, Dept Surg, Immunogenet & Transplantat Lab, San Francisco, CA USA

[25] Finnish Red Cross Blood Serv, Res & Dev, Vantaa, Finland

[26] Acad Athens, Biomed Res Fdn, Histocompatibil & Immunogenet Lab, Hellen Cord Blood Bank, Athens, Greece

[27] Tokai Univ, Sch Med, Dept Mol Life Sci, Isehara, Japan

[28] Stanford Univ, Dept Struct Biol, Sch Med, Stanford, CA USA

[29] Stanford Univ, Sch Med, Dept Microbiol & Immunol, Stanford, CA USA

来源：

HLA | 2024年 / 103卷 / 06期

关键词：

ancestry; assembly; ethnicity; HLA; homozygous; IHIW; long-read; MHC; reference haplotype; sequencing; short-read; CLASS-I; MEIOTIC RECOMBINATION; HIGH-RESOLUTION; GENE MAP; SELECTION;

D O I：

暂无

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

引用

页数：8

共 40 条

[1]

[Anonymous], 1996, Genetic Diversity of HLA. Functional and Medical Implications

[2] The IPD-IMGT/HLA Database [J].

Barker, Dominic J. ;

Maccari, Giuseppe ;

Georgiou, Xenia ;

Cooper, Michael A. ;

Flicek, Paul ;

Robinson, James ;

Marsh, Steven G. E. .

NUCLEIC ACIDS RESEARCH, 2023, 51 (D1) :D1053-D1060

[3] Complete sequence and gene map of a human major histocompatibility complex [J].

Beck, S ;

Geraghty, D ;

Inoko, H ;

Rowen, L ;

Aguado, B ;

Bahram, S ;

Campbell, RD ;

Forbes, SA ;

Guillaudeux, T ;

Hood, L ;

Horton, R ;

Janer, M ;

Jasoni, C ;

Madan, A ;

Milne, S ;

Neville, M ;

Oka, A ;

Qin, S ;

Ribas-Despuig, G ;

Rogers, J ;

Shiina, T ;

Spies, T ;

Tamiya, G ;

Tashiro, H ;

Trowsdale, J ;

Vu, Q ;

Williams, L ;

Yamazaki, M .

NATURE, 1999, 401 (6756) :921-923

[4] A historical perspective on HLA [J].

Bodmer, Walter .

IMMUNOTHERAPY ADVANCES, 2023, 3 (01)

[5] High-resolution patterns of meiotic recombination across the human major histocompatibility complex [J].

Cullen, M ;

Perfetto, SP ;

Klitz, W ;

Nelson, G ;

Carrington, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) :759-776

[6] Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease [J].

D'Antonio, Matteo ;

Reyna, Joaquin ;

Jakubosky, David ;

Donovan, Margaret K. R. ;

Bonder, Marc-Jan ;

Matsui, Hiroko ;

Stegle, Oliver ;

Nariai, Naoki ;

D'Antonio-Chronowska, Agnieszka ;

Frazer, Kelly A. .

ELIFE, 2019, 8

[7] HLA variation and disease [J].

Dendrou, Calliope A. ;

Petersen, Jan ;

Rossjohn, Jamie ;

Fugger, Lars .

NATURE REVIEWS IMMUNOLOGY, 2018, 18 (05) :325-339

[8] State-of-the-art genome inference in the human MHC [J].

Dilthey, Alexander T. .

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY, 2021, 131

[9] HLA*LA-HLA typing from linearly projected graph alignments [J].

Dilthey, Alexander T. ;

Mentzer, Alexander J. ;

Carapito, Raphael ;

Cutland, Clare ;

Cereb, Nezih ;

Madhi, Shabir A. ;

Rhie, Arang ;

Koren, Sergey ;

Bahram, Seiamak ;

McVean, Gil ;

Phillippy, Adam M. .

BIOINFORMATICS, 2019, 35 (21) :4394-4396

[10] Haplotype-resolved diverse human genomes and integrated analysis of structural variation [J].

Ebert, Peter ;

Audano, Peter A. ;

Zhu, Qihui ;

Rodriguez-Martin, Bernardo ;

Porubsky, David ;

Bonder, Marc Jan ;

Sulovari, Arvis ;

Ebler, Jana ;

Zhou, Weichen ;

Mari, Rebecca Serra ;

Yilmaz, Feyza ;

Zhao, Xuefang ;

Hsieh, PingHsun ;

Lee, Joyce ;

Kumar, Sushant ;

Lin, Jiadong ;

Rausch, Tobias ;

Chen, Yu ;

Ren, Jingwen ;

Santamarina, Martin ;

Hops, Wolfram ;

Ashraf, Hufsah ;

Chuang, Nelson T. ;

Yang, Xiaofei ;

Munson, Katherine M. ;

Lewis, Alexandra P. ;

Fairley, Susan ;

Tallon, Luke J. ;

Clarke, Wayne E. ;

Basile, Anna O. ;

Byrska-Bishop, Marta ;

Corvelo, Andre ;

Evani, Uday S. ;

Lu, Tsung-Yu ;

Chaisson, Mark J. P. ;

Chen, Junjie ;

Li, Chong ;

Brand, Harrison ;

Wenger, Aaron M. ;

Ghareghani, Maryam ;

Harvey, William T. ;

Raeder, Benjamin ;

Hasenfeld, Patrick ;

Regier, Allison A. ;

Abel, Haley J. ;

Hall, Ira M. ;

Flicek, Paul ;

Stegle, Oliver ;

Gerstein, Mark B. ;

Tubio, Jose M. C. .

SCIENCE, 2021, 372 (6537) :48-+

← 1 2 3 4 →