Deep Sequencing of 10,000 Human Genomes

Abstract excerpt

We report on the sequencing of 10,545 human genomes at 30-40x coverage with an emphasis on quality metrics and novel variant and sequence discovery. We find that 84% of an individual human genome can be sequenced confidently. This high confidence region includes 91.5% of exon sequence and 95.2% of known pathogenic variant positions. We present thedistribution of over 150 million single nucleotide variants in the c...

Topics

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• Computational Biology
• Databases, Nucleic Acid
• Genome, Human
• Genomics
• Open Reading Frames
• Reproducibility of Results
• Untranslated Regions
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

b356fc70-7654-5fcc-9999-4a894539e08b

DOI

10.1101/061663