STRUCTURAL VARIANT DETECTION USING SPATIALLY LINKED READS

Abstract: systems and methods are provided for detecting a structural variant using complementary sequencing information, where the complementary information includes the spatial location of the sequence and the links between sequences. a baseline metric for the distribution of links for a low probability of structural variants may be used to determine whether variations in the number or distribution of spatially linked sequences is significant and could indicate the presence of a structural variant.

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

CPC Classification: G16B20/20 (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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