| CPC G16B 30/10 (2019.02) [G16B 40/00 (2019.02)] | 20 Claims |
|
1. A method performed by one or more processors, the method comprising:
determining, for a partial genome sequencing process of an organism, at least one target length of at least one partial genome sequence output;
causing a sequencer to generate, based on a sample of the organism, a plurality of marking data associated with a genome of the organism, wherein generating of the plurality of marking data comprises:
imaging first marking data of the plurality of marking data;
determining, based on a plurality of cycles associated with the at least one target length, the first marking data of the plurality of marking data, wherein the first marking data comprises a plurality of image data portions, and wherein the plurality of image data portions comprises:
a first image data portion associated with a first length of a first polynucleotide chain of the genome; and
a second image data portion associated with a second length of a second polynucleotide chain of the genome, wherein the second length is shorter than the first length; and
before imaging second marking data of the plurality of marking data:
converting the first marking data to first sequence data;
detecting, based on the first sequence data, completion of a first read of paired-end reads and a partial completion of a second read of the paired-end reads, wherein the partial completion of the second read is associated with the second length of the second polynucleotide chain and satisfies a target length associated with the second read;
aligning, based on reference sequence data associated with the organism, the first sequence data, wherein the aligned first sequence data comprises:
a first aligned portion corresponding to the first read; and
a second aligned portion corresponding to a partial portion of the second read;
identifying, based on the aligned first sequence data, a structural variant; and
generating a first report comprising information on the identified structural variant.
|