Methods and systems for sequence calling

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.

Description

[0001] cross reference [0002] This application claims the benefit of U.S. Provisional Patent Application No. 62 / 577,450, filed October 26, 2017, which is hereby incorporated by reference in its entirety. Background technique [0003] The goal of elucidating the entire human genome has fueled interest in rapid nucleic acid (eg, DNA) sequencing technologies for both small-scale and large-scale applications. As knowledge of the genetic basis of human disease has increased, high-throughput DNA sequencing has been used for a wide variety of clinical applications. Although nucleic acid sequencing methods and systems are ubiquitous in a wide range of molecular biology and diagnostic applications, such methods and systems may encounter challenges in accurate base calls, such as when the sequencing signal contains When repeating nucleotide base regions of polymers. In particular, sequencing methods that perform base calling based on quantified characteristic signals indicative of ...

AI Technical Summary

Problems solved by technology

Such signal changes and proximity to sequence-dependent signals can lead to problems in calling sequences (e.g., homopolymers)

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