Applications of long-read sequencing to Mendelian genetics

FK Mastrorosa, DE Miller, EE Eichler - Genome medicine, 2023 - Springer
Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …

An introduction to nanopore sequencing: past, present, and future considerations

M MacKenzie, C Argyropoulos - Micromachines, 2023 - mdpi.com
There has been significant progress made in the field of nanopore biosensor development
and sequencing applications, which address previous limitations that restricted widespread …

GenStore: A high-performance in-storage processing system for genome sequence analysis

N Mansouri Ghiasi, J Park, H Mustafa, J Kim… - Proceedings of the 27th …, 2022 - dl.acm.org
Read map** is a fundamental step in many genomics applications. It is used to identify
potential matches and differences between fragments (called reads) of a sequenced …

Portable nanopore-sequencing technology: Trends in development and applications

P Chen, Z Sun, J Wang, X Liu, Y Bai, J Chen… - Frontiers in …, 2023 - frontiersin.org
Sequencing technology is the most commonly used technology in molecular biology
research and an essential pillar for the development and applications of molecular biology …

Clinical Diagnostics of Bacterial Infections and Their Resistance to Antibiotics—Current State and Whole Genome Sequencing Implementation Perspectives

E Avershina, A Khezri, R Ahmad - Antibiotics, 2023 - mdpi.com
Antimicrobial resistance (AMR), defined as the ability of microorganisms to withstand
antimicrobial treatment, is responsible for millions of deaths annually. The rapid spread of …

GenStore: A High-Performance and Energy-Efficient In-Storage Computing System for Genome Sequence Analysis

NM Ghiasi, J Park, H Mustafa, J Kim, A Olgun… - ar** is a fundamental, yet computationally-expensive step in many genomics
applications. It is used to identify potential matches and differences between fragments …

Genpip: In-memory acceleration of genome analysis via tight integration of basecalling and read map**

H Mao, M Alser, M Sadrosadati, C Firtina… - 2022 55th IEEE/ACM …, 2022 - ieeexplore.ieee.org
Nanopore sequencing is a widely-used high-throughput genome sequencing technology
that can sequence long fragments of a genome into raw electrical signals at low cost …

Accelerating genome analysis via algorithm-architecture co-design

O Mutlu, C Firtina - 2023 60th ACM/IEEE Design Automation …, 2023 - ieeexplore.ieee.org
High-throughput sequencing (HTS) technologies have revolutionized the field of genomics,
enabling rapid and cost-effective genome analysis for various applications. However, the …

Applications of deep learning for drug discovery systems with bigdata

Y Matsuzaka, R Yashiro - BioMedInformatics, 2022 - mdpi.com
The adoption of “artificial intelligence (AI) in drug discovery”, where AI is used in the process
of pharmaceutical research and development, is progressing. By using the ability to process …

Short- and Long-Read Sequencing Reveals the Presence and Evolution of an IncF Plasmid Harboring blaCTX-M-15 and blaCTX-M-27 Genes in Escherichia coli …

R Cave, MM Ter-Stepanyan… - Microbiology Spectrum, 2023 - Am Soc Microbiol
Escherichia coli sequence type 131 (ST131) has contributed to the spread of extended-
spectrum beta-lactamase (ESBL) and has emerged as the dominant cause of hospital-and …