[HTML][HTML] Nanopore sequencing technology, bioinformatics and applications

Y Wang, Y Zhao, A Bollas, Y Wang, KF Au - Nature biotechnology, 2021 - nature.com
Rapid advances in nanopore technologies for sequencing single long DNA and RNA
molecules have led to substantial improvements in accuracy, read length and throughput …

Resolving complex structural variants via nanopore sequencing

S Romagnoli, N Bartalucci, AM Vannucchi - Frontiers in Genetics, 2023 - frontiersin.org
The recent development of high-throughput sequencing platforms provided impressive
insights into the field of human genetics and contributed to considering structural variants …

High-resolution Nanopore methylome-maps reveal random hyper-methylation at CpG-poor regions as driver of chemoresistance in leukemias

A Magi, G Mattei, A Mingrino, C Caprioli… - Communications …, 2023 - nature.com
Aberrant DNA methylation at CpG dinucleotides is a cancer hallmark that is associated with
the emergence of resistance to anti cancer treatment, though molecular mechanisms and …

Mapping log data activity using heuristic miner algorithm in manufacture and logistics company

SF Pane, RM Awan, MAH Siregar… - … Electronics and Control …, 2021 - telkomnika.uad.ac.id
Strategies for the procurement of goods and services are essential for companies in
Indonesia's manufacturing and logistics sectors. The solution to reducing the existing …

[HTML][HTML] Third-generation cytogenetic analysis: diagnostic application of long-read sequencing

P Magini, A Mingrino, B Gega, G Mattei… - The Journal of Molecular …, 2022 - Elsevier
Copy number variants (CNVs) play important roles in the pathogenesis of several genetic
syndromes. Traditional and molecular karyotyping are considered the first-tier diagnostic …

MANASIG: Python package to manipulate nanopore signals from sequencing files

V Bartoň, M Nykrýnová… - 2021 IEEE International …, 2021 - ieeexplore.ieee.org
Sequencing technology allows us to study the structure and function of several genomic
processes. Recently, nanopore sequencing technology has become widely used. It allows …

Versatile quality control methods for nanopore sequencing

D Bolognini, R Semeraro… - Evolutionary …, 2019 - journals.sagepub.com
Third-generation sequencing using nanopores as biosensors has recently emerged as a
strategy capable to overcome next-generation sequencing drawbacks and pitfalls …

[HTML][HTML] Current and Emerging Tools and Technologies for Studying RNA Modifications

National Academies of Sciences … - Charting a Future for …, 2024 - ncbi.nlm.nih.gov
To understand more fully the role of RNA and its modifications in living systems, researchers
will need robust, reproducible, and accessible tools and techniques capable of identifying all …

Third Generation Cytogenetic Analysis (TGCA): diagnostic application of long-read sequencing

P Magini, A Mingrino, B Gega, G Mattei, R Semeraro… - bioRxiv, 2021 - biorxiv.org
Abstract Unbalanced Structural Variants (uSVs) play important roles in the pathogenesis of
several genetic syndromes. Traditional and molecular karyotyping are considered the first …

[PDF][PDF] SURPY Python Toolkit for Data Analysis

S Sangkhathat, W Laochareonsuk… - The Thai Journal of …, 2021 - he02.tci-thaijo.org
Objective: SURPY is a Python-based package for statistical analysis available on PyPi
repository. The present study aims to evaluate performance of the SURPY package in …