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Integrating Hi-C links with assembly graphs for chromosome-scale assembly.
Ghurye, Jay; Rhie, Arang; Walenz, Brian P; Schmitt, Anthony; Selvaraj, Siddarth; Pop, Mihai; Phillippy, Adam M; Koren, Sergey.
Afiliação
  • Ghurye J; Department of Computer Science, University of Maryland, College Park, Maryland, United States of America.
  • Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland, United States of America.
  • Walenz BP; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland, United States of America.
  • Schmitt A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland, United States of America.
  • Selvaraj S; Arima Genomics, San Diego, California, United States of America.
  • Pop M; Arima Genomics, San Diego, California, United States of America.
  • Phillippy AM; Department of Computer Science, University of Maryland, College Park, Maryland, United States of America.
  • Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland, United States of America.
PLoS Comput Biol ; 15(8): e1007273, 2019 08.
Article em En | MEDLINE | ID: mdl-31433799
ABSTRACT
Long-read sequencing and novel long-range assays have revolutionized de novo genome assembly by automating the reconstruction of reference-quality genomes. In particular, Hi-C sequencing is becoming an economical method for generating chromosome-scale scaffolds. Despite its increasing popularity, there are limited open-source tools available. Errors, particularly inversions and fusions across chromosomes, remain higher than alternate scaffolding technologies. We present a novel open-source Hi-C scaffolder that does not require an a priori estimate of chromosome number and minimizes errors by scaffolding with the assistance of an assembly graph. We demonstrate higher accuracy than the state-of-the-art methods across a variety of Hi-C library preparations and input assembly sizes. The Python and C++ code for our method is openly available at https//github.com/machinegun/SALSA.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Cromossomos Humanos / Genômica Limite: Animals / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Cromossomos Humanos / Genômica Limite: Animals / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article