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Method and system for sequence alignment and variant calling
Method and system for sequence alignment and variant calling
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摘要
The method of aligning a next-generation sequencing read with a reference sequence includes: (a) receiving the sequencing read; and (b) performing a first alignment of the sequencing read with respect to the reference sequence to map the sequencing read. Identifying a target sequence within the reference sequence, (c) selecting a first anchor sequence and a second anchor sequence, (d) placing the first anchor sequence in an upstream region of a sequencing read, and Attaching a second anchor sequence to a downstream region of the sequencing read to produce an extended sequencing read; and (e) placing the first anchor sequence in an upstream region of the target sequence and the second anchor sequence. To the downstream region of the target sequence to produce an extended target sequence; and (f) an extended sequence for the extended target sequence. Performing a second alignment of the sensing reads, wherein the second alignment maps to the target sequence more accurately than the first alignment; and (g) a second alignment result. Identifying a position in which one or more bases differ between the extended sequencing read and the extended target sequence based on (h) and (h) identifying the variant based on the identification in step (g). Including calling.
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