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Söylev, 2018 - Google Patents

Algorithms for Structural Variation Discovery Using Multiple Sequence Signatures

Söylev, 2018

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Document ID
15695059032795697813
Author
Söylev A
Publication year
Publication venue
PQDT-Global

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Genomic variations including single nucleotide polymorphisms (SNPs), small INDELs and structural variations (SVs) are known to have significant phenotypic effects on individuals. Among them, SVs, that alter more than 50 nucleotides of DNA, are the major source of …
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    • G06COMPUTING; CALCULATING; COUNTING
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    • G06F19/10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • 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
    • GPHYSICS
    • G06COMPUTING; CALCULATING; COUNTING
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    • G06F19/18Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
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    • G06F19/20Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for hybridisation or gene expression, e.g. microarrays, sequencing by hybridisation, normalisation, profiling, noise correction models, expression ratio estimation, probe design or probe optimisation
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