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Audano et al., 2019 - Google Patents

Characterizing the major structural variant alleles of the human genome

Audano et al., 2019

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Document ID
8098965056825910662
Author
Audano P
Sulovari A
Graves-Lindsay T
Cantsilieris S
Sorensen M
Welch A
Dougherty M
Nelson B
Shah A
Dutcher S
Warren W
Magrini V
McGrath S
Li Y
Wilson R
Eichler E
Publication year
Publication venue
Cell

External Links

Snippet

In order to provide a comprehensive resource for human structural variants (SVs), we generated long-read sequence data and analyzed SVs for fifteen human genomes. We sequence resolved 99,604 insertions, deletions, and inversions including 2,238 (1.6 Mbp) …
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    • G06F19/22Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
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