DETERMINING STRUCTURAL VARIANTS

Abstract: described are dna sequencing systems and methods. systems and methods may establish a link between read sequences when the sequences are within a threshold distance. the read sequences that are mapped and aligned with high confidence may be used to determine the location of the nearby linked read sequences that would otherwise be difficult to place. the systems and methods may identify structural variants in the polynucleotide by analyzing sequence reads located within a threshold distance to the anchor sequence reads on the flowcell to determine sequence reads linked to the anchor sequence reads.

Inventor(s): Marzieh Eslami Rasekh, Vitor Ferreira Onuchic, Mitchell A. Bekritsky

CPC Classification: G16B30/10 (BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY)

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