PMID- 29415772 OWN - NLM STAT- MEDLINE DCOM- 20180816 LR - 20181113 IS - 1474-760X (Electronic) IS - 1474-7596 (Print) IS - 1474-7596 (Linking) VI - 19 IP - 1 DP - 2018 Feb 7 TI - Kourami: graph-guided assembly for novel human leukocyte antigen allele discovery. PG - 16 LID - 10.1186/s13059-018-1388-2 [doi] LID - 16 AB - Accurate typing of human leukocyte antigen (HLA) is important because HLA genes play important roles in immune responses and disease genesis. Previously available computational methods are database-matching approaches and their outputs are inherently limited by the completeness of already known types, making them unsuitable for discovery of novel alleles. We have developed a graph-guided assembly technique for classical HLA genes, which can construct allele sequences given high-coverage whole-genome sequencing data. Our method delivers highly accurate HLA typing, comparable to the current state-of-the-art methods. Using various data, we also demonstrate that our method can type novel alleles. FAU - Lee, Heewook AU - Lee H AD - Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA, USA. FAU - Kingsford, Carl AU - Kingsford C AD - Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA, USA. carlk@cs.cmu.edu. LA - eng GR - CCF-1256087/Division of Computing and Communication Foundations/International GR - R01 HG007104/HG/NHGRI NIH HHS/United States GR - GBMF4554/Gordon and Betty Moore Foundation/International GR - R01HG007104/HG/NHGRI NIH HHS/United States GR - CCF-1319998/Division of Computing and Communication Foundations/International PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. DEP - 20180207 PL - England TA - Genome Biol JT - Genome biology JID - 100960660 RN - 0 (HLA Antigens) SB - IM MH - *Alleles MH - Genome MH - HLA Antigens/*genetics MH - Haplotypes MH - Histocompatibility Testing/*methods MH - Humans MH - Terminology as Topic MH - Whole Genome Sequencing PMC - PMC5804087 COIS- ETHICS APPROVAL AND CONSENT TO PARTICIPATE: Not applicable. COMPETING INTERESTS: The authors declare that they have no competing interests. PUBLISHER'S NOTE: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. EDAT- 2018/02/09 06:00 MHDA- 2018/08/17 06:00 PMCR- 2018/02/07 CRDT- 2018/02/09 06:00 PHST- 2017/05/17 00:00 [received] PHST- 2018/01/08 00:00 [accepted] PHST- 2018/02/09 06:00 [entrez] PHST- 2018/02/09 06:00 [pubmed] PHST- 2018/08/17 06:00 [medline] PHST- 2018/02/07 00:00 [pmc-release] AID - 10.1186/s13059-018-1388-2 [pii] AID - 1388 [pii] AID - 10.1186/s13059-018-1388-2 [doi] PST - epublish SO - Genome Biol. 2018 Feb 7;19(1):16. doi: 10.1186/s13059-018-1388-2.