Method And Computer Program Product For Detecting Mutation In A Nucleotide Sequence


Ontology type: sgo:Patent     


Patent Info

DATE

2014-03-20T00:00

AUTHORS

PONGOR, Lőrinc , PINTÉR, Ferenc , PETÁK, István

ABSTRACT

A method of detecting mutation in a nucleotide sequence is disclosed. The method comprises the steps of: providing a reference nucleotide sequence (100), providing a nucleotide sequence read (110) corresponding to said reference nucleotide sequence (100), said nucleotide sequence read (110) having a predetermined similarity to the reference nucleotide sequence (100), generating a set of overlapping sub-words (101) from the reference sequence (100), matching all of the overlapping sub-words (101) of the reference sequence (100) with the read sequence (110) by applying an exact string matching algorithm, when one or more subsequent non-matching sub-word (101) is found in the nucleotide sequence read (110), defining a polymorphic region (102) of the reference nucleotide sequence (100) between the end of the last matching sub-word (101a) prior to the first non-matching sub-word and the beginning of the first matching sub-word (101b) following the last non-matching sub-word, identifying a simple mutation within the nucleotide sequence read (110) by using a character-based comparison of said polymorphic region (102) of the reference nucleotide sequence (100) to a respective mutated segment (112) of the nucleotide sequence read (110), and/or identifying a complex mutation within the nucleotide sequence read (110) by using a dynamic programming algorithm for comparing said polymorphic region (102) of the reference nucleotide sequence (100) with said mutated segment (112) of the nucleotide sequence read (110). More... »

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