System and method for secondary analysis of nucleotide sequencing data
AssigneeIllumina, Inc.
InventorsFrancisco Jose GARCIA, Come RACZY, Aaron DAY, Michael J. CARNEY
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AssigneeIllumina, Inc.
InventorsFrancisco Jose GARCIA, Come RACZY, Aaron DAY, Michael J. CARNEY
Estimating the term…
Disclosed herein are systems and methods for performing secondary analyses of nucleotide sequencing data in a time-efficient manner. Some embodiments include performing a secondary analysis iteratively while sequence reads are generated by a sequencing system. Secondary analyses can encompass both alignment of sequence reads to a reference sequence (e.g., the human reference genome sequence) and utilization of this alignment to detect differences between a sample and the reference. Secondary analysis can enable detection of genetic differences, variant detection and genotyping, identification of single nucleotide polymorphisms (SNPs), small insertions and deletion (indels) and structural changes in the DNA, such as copy number variants (CNVs) and chromosomal rearrangements.
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A system for sequencing polynucleotides, comprising:
A computer-implemented method for efficient sequencing of polynucleotides, comprising:
Dependencies are inferred from the claim text.