发明名称 METHOD, COMPUTER-ACCESSIBLE MEDIUM AND SYSTEM FOR BASE-CALLING AND ALIGNMENT
摘要 Exemplary methods, procedures, computer-accessible medium, and systems for base-calling, aligning and polymorphism detection and analysis using raw output from a sequencing platform can be provided. A set of raw outputs can be used to detect polymorphisms in an individual by obtaining a plurality of sequence read data from one or more technologies (e.g., using sequencing-by-synthesis, sequencing-by-ligation, sequencing-by-hybridization, Sanger sequencing, etc.). For example, provided herein are exemplary methods, procedures, computer-accessible medium and systems, which can include and/or be configured for obtaining raw output from a sequencing platform configured to be used for reading fragment(s) of genomes, obtaining reference sequences for the genomes obtained independently from the raw output, and generating a base-call interpretation and/or alignment using the raw output and the reference sequences. For example, a score function can be determined based on information associated with the sequencing platform that can be used to analyze polymorphisms based on the base-call interpretation and/or alignment.
申请公布号 US2012116688(A1) 申请公布日期 2012.05.10
申请号 US201013266662 申请日期 2010.04.27
申请人 MISHRA BHUBANESWAR;NARZISI GIUSEPPE;NEW YORK UNIVERSITY 发明人 MISHRA BHUBANESWAR;NARZISI GIUSEPPE
分类号 G06F19/16;G06F19/22 主分类号 G06F19/16
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