{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T03:55:51Z","timestamp":1775706951202,"version":"3.50.1"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Motivation: Transcriptome sequencing has long been the favored method for quickly and inexpensively obtaining a large number of gene sequences from an organism with no reference genome. Owing to the rapid increase in throughputs and decrease in costs of next- generation sequencing, RNA-Seq in particular has become the method of choice. However, the very short reads (e.g. 2 \u00d7 90 bp paired ends) from next generation sequencing makes de novo assembly to recover complete or full-length transcript sequences an algorithmic challenge.<\/jats:p>\n                  <jats:p>Results: Here, we present SOAPdenovo-Trans, a de novo transcriptome assembler designed specifically for RNA-Seq. We evaluated its performance on transcriptome datasets from rice and mouse. Using as our benchmarks the known transcripts from these well-annotated genomes (sequenced a decade ago), we assessed how SOAPdenovo-Trans and two other popular transcriptome assemblers handled such practical issues as alternative splicing and variable expression levels. Our conclusion is that SOAPdenovo-Trans provides higher contiguity, lower redundancy and faster execution.<\/jats:p>\n                  <jats:p>Availability and implementation: Source code and user manual are available at http:\/\/sourceforge.net\/projects\/soapdenovotrans\/.<\/jats:p>\n                  <jats:p>Contact: \u00a0xieyl@genomics.cn or bgi-soap@googlegroups.com<\/jats:p>\n                  <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btu077","type":"journal-article","created":{"date-parts":[[2014,2,14]],"date-time":"2014-02-14T21:04:22Z","timestamp":1392411862000},"page":"1660-1666","source":"Crossref","is-referenced-by-count":836,"title":["SOAPdenovo-Trans:\n                    <i>de novo<\/i>\n                    transcriptome assembly with short RNA-Seq reads"],"prefix":"10.1093","volume":"30","author":[{"given":"Yinlong","family":"Xie","sequence":"first","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"},{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"},{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Gengxiong","family":"Wu","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Jingbo","family":"Tang","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"},{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Ruibang","family":"Luo","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"},{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"},{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa 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Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Shanlin","family":"Liu","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Weihua","family":"Huang","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, 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Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"},{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Shengkang","family":"Li","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Xin","family":"Zhou","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Tak-Wah","family":"Lam","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Yingrui","family":"Li","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Xun","family":"Xu","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of 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Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"},{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University 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10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"}]},{"given":"Jun","family":"Wang","sequence":"additional","affiliation":[{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"},{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada, 9The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen DK-2200, Denmark, 10Department of Biology, University of Copenhagen, Copenhagen DK-2200, Denmark and 11Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, Kin"},{"name":"1 School of Bioscience and Bioengineering, South China University of Technology 510006, Guangzhou, China, 2BGI-Shenzhen, Shenzhen 518083, China, 3HKU-BGI Bioinformatics Algorithms and Core Technology Research Laboratory and Department of Computer Science, University of Hong Kong, Pokfulam, Hong Kong, 4Institute of Biomedical Engineering, XiangYa School of Medicine, Central South University, Changsha 410008, China, 5BGI-tech, BGI-Shenzhen, Shenzhen 518083, China, 6Department of Medicine, University of Alberta, Edmonton, AB T6G 2E1, Canada, 7Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China, 8Department of 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