De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data.

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作者： Adam,Ameur ^[1] ; Huiwen,Che ^[2] ; Marcel,Martin ^[3] ; Ignas,Bunikis ^[4] ; Johan,Dahlberg ^[5] ; Ida,Höijer ^[6] ; Susana,Häggqvist ^[7] ; Francesco,Vezzi ^[8] ; Jessica,Nordlund ^[9] ; Pall,Olason ^[10] ; Lars,Feuk ^[11] ; Ulf,Gyllensten ^[12]

作者单位： Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, 752 36 Uppsala, Sweden. adam.ameur@igp.uu.se. ^[1] Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, 752 36 Uppsala, Sweden. chehuiw@hotmail.com. ^[2] Science for Life Laboratory, Department of Biochemistry and Biophysics (DBB), Stockholm University, 114 19 Stockholm, Sweden. marcel.martin@scilifelab.se. ^[3] Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, 752 36 Uppsala, Sweden. ignas.bunikis@igp.uu.se. ^[4] Science for Life Laboratory, Department of Medical Sciences, Molecular Medicine, Uppsala University, 752 36 Uppsala, Sweden. johan.dahlberg@medsci.uu.se. ^[5] Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, 752 36 Uppsala, Sweden. ida.hoijer@igp.uu.se. ^[6] Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, 752 36 Uppsala, Sweden. susana.haggqvist@igp.uu.se. ^[7] Science for Life Laboratory, Department of Biochemistry and Biophysics (DBB), Stockholm University, 114 19 Stockholm, Sweden. francesco.vezzi@scilifelab.se. ^[8] Science for Life Laboratory, Department of Medical Sciences, Molecular Medicine, Uppsala University, 752 36 Uppsala, Sweden. jessica.nordlund@medsci.uu.se. ^[9] Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, 752 36 Uppsala, Sweden. pallolason@gmail.com. ^[10] Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, 752 36 Uppsala, Sweden. lars.feuk@igp.uu.se. ^[11] Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, 752 36 Uppsala, Sweden. ulf.gyllensten@igp.uu.se. ^[12]

关键词 GRCh38 SMRT sequencing Swedish population de novo assembly human reference genome human whole-genome sequencing population sequencing

DOI 10.3390/genes9100486

PMID 30304863

发布时间 2019-11-20

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