Aquila: diploid personal genome assembly and comprehensive variant detection based on linked reads

Abstract excerpt

Variant discovery in personal, whole genome sequence data is critical for uncovering the genetic contributions to health and disease. We introduce a new approach, Aquila, that uses linked-read data for generating a high quality diploid genome assembly, from which it then comprehensively detects and phases personal genetic variation. Assemblies cover >95% of the human reference genome, with over 98% in a diploid st...

Topics

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• Computational Biology
• Diploidy
• Genome, Human
• Genomics
• High-Throughput Nucleotide Sequencing
• Polymorphism, Single Nucleotide
• Reproducibility of Results
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

985a5ea9-462b-5fd1-9030-398faa190862

DOI

10.1101/660605