RawHash2: Mapping Raw Nanopore Signals Using Hash-Based Seeding and Adaptive Quantization

Fuente: arXiv
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Autori principali: Firtina, Can, Soysal, Melina, Lindegger, Joël, Mutlu, Onur
Natura: Preprint
Pubblicazione: 2023
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author Firtina, Can
Soysal, Melina
Lindegger, Joël
Mutlu, Onur
author_facet Firtina, Can
Soysal, Melina
Lindegger, Joël
Mutlu, Onur
contents Summary: Raw nanopore signals can be analyzed while they are being generated, a process known as real-time analysis. Real-time analysis of raw signals is essential to utilize the unique features that nanopore sequencing provides, enabling the early stopping of the sequencing of a read or the entire sequencing run based on the analysis. The state-of-the-art mechanism, RawHash, offers the first hash-based efficient and accurate similarity identification between raw signals and a reference genome by quickly matching their hash values. In this work, we introduce RawHash2, which provides major improvements over RawHash, including a more sensitive quantization and chaining implementation, weighted mapping decisions, frequency filters to reduce ambiguous seed hits, minimizers for hash-based sketching, and support for the R10.4 flow cell version and various data formats such as POD5 and SLOW5. Compared to RawHash, RawHash2 provides better F1 accuracy (on average by 10.57% and up to 20.25%) and better throughput (on average by 4.0x and up to 9.9x) than RawHash. Availability and Implementation: RawHash2 is available at https://github.com/CMU-SAFARI/RawHash. We also provide the scripts to fully reproduce our results on our GitHub page.
format Preprint
id arxiv_https___arxiv_org_abs_2309_05771
institution arXiv
publishDate 2023
record_format arxiv
spellingShingle RawHash2: Mapping Raw Nanopore Signals Using Hash-Based Seeding and Adaptive Quantization
Firtina, Can
Soysal, Melina
Lindegger, Joël
Mutlu, Onur
Genomics
Quantitative Methods
Summary: Raw nanopore signals can be analyzed while they are being generated, a process known as real-time analysis. Real-time analysis of raw signals is essential to utilize the unique features that nanopore sequencing provides, enabling the early stopping of the sequencing of a read or the entire sequencing run based on the analysis. The state-of-the-art mechanism, RawHash, offers the first hash-based efficient and accurate similarity identification between raw signals and a reference genome by quickly matching their hash values. In this work, we introduce RawHash2, which provides major improvements over RawHash, including a more sensitive quantization and chaining implementation, weighted mapping decisions, frequency filters to reduce ambiguous seed hits, minimizers for hash-based sketching, and support for the R10.4 flow cell version and various data formats such as POD5 and SLOW5. Compared to RawHash, RawHash2 provides better F1 accuracy (on average by 10.57% and up to 20.25%) and better throughput (on average by 4.0x and up to 9.9x) than RawHash. Availability and Implementation: RawHash2 is available at https://github.com/CMU-SAFARI/RawHash. We also provide the scripts to fully reproduce our results on our GitHub page.
title RawHash2: Mapping Raw Nanopore Signals Using Hash-Based Seeding and Adaptive Quantization
topic Genomics
Quantitative Methods
url https://arxiv.org/abs/2309.05771