Abstract: To analyze spatial organization of chromatin a computing device may compile genomic element contacts or reads into variable size bins using a binary search tree. The bins may be selected to each represent a different cutsite increment or functional element within a genome, such as a gene, TAD, chromatin state segment, loop domain, chromatin domain, etc. Two sets of bins are selected to generate a squared genome matrix of bin pairs, where each set represent an axis of the matrix. Then a normalization method is applied to the interaction frequencies for the bin pairs having variable size and/or shape to generate normalized interaction frequencies for each bin pair. The normalized interaction frequencies may be used to identify bin pairs having enriched and depleted contacts for a variety of analyses, including the detection of target genes of genomic variants, as well as genome wide analysis of contacts.

Abstract: A field programmable gate array (FPGA) may: identify a continuous match of atoms between the search sequence and the reference sequence; divide the search sequence into a left portion of the search sequence that includes atoms before the continuous match of atoms in the search sequence, a center portion of the search sequence that includes the continuous match of atoms in the search sequence, and a right portion of the search sequence that includes atoms after the continuous match of atoms in the search sequence; match the left portion of the search sequence with the reference sequence; and match the right portion of the search sequence with the reference sequence.

Abstract: The present disclosure provides methods and systems for accurate and efficient context-aware base calling of sequences. In an aspect, disclosed herein is a method for sequencing a nucleic acid molecule, comprising: (a) sequencing the nucleic acid molecule to generate a plurality of sequence signals; and (b) determining base calls of the nucleic acid molecule based at least in part on (i) the plurality of sequence signals and (ii) quantified context dependency for at least a portion of the plurality of sequence signals.