Current challenges and best-practice protocols for microbiome analysis

R Bharti, DG Grimm - Briefings in bioinformatics, 2021 - academic.oup.com
Analyzing the microbiome of diverse species and environments using next-generation
sequencing techniques has significantly enhanced our understanding on metabolic …

Recent advanced technologies for the characterization of xenobiotic-degrading microorganisms and microbial communities

S Mishra, Z Lin, S Pang, W Zhang, P Bhatt… - … in Bioengineering and …, 2021 - frontiersin.org
Global environmental contamination with a complex mixture of xenobiotics has become a
major environmental issue worldwide. Many xenobiotic compounds severely impact the …

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

S Ardui, A Ameur, JR Vermeesch… - Nucleic acids …, 2018 - academic.oup.com
Short read massive parallel sequencing has emerged as a standard diagnostic tool in the
medical setting. However, short read technologies have inherent limitations such as GC …

Next-generation sequencing and emerging technologies

KR Kumar, MJ Cowley, RL Davis - Seminars in thrombosis and …, 2024 - thieme-connect.com
Genetic sequencing technologies are evolving at a rapid pace with major implications for
research and clinical practice. In this review, the authors provide an updated overview of …

Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics

R Pereira, J Oliveira, M Sousa - Journal of clinical medicine, 2020 - mdpi.com
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …

GenASM: A high-performance, low-power approximate string matching acceleration framework for genome sequence analysis

DS Cali, GS Kalsi, Z Bingöl, C Firtina… - 2020 53rd Annual …, 2020 - ieeexplore.ieee.org
Genome sequence analysis has enabled significant advancements in medical and scientific
areas such as personalized medicine, outbreak tracing, and the understanding of evolution …

The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution

A Ballhausen, MJ Przybilla, M Jendrusch… - Nature …, 2020 - nature.com
The immune system can recognize and attack cancer cells, especially those with a high load
of mutation-induced neoantigens. Such neoantigens are abundant in DNA mismatch repair …

Resolving the full spectrum of human genome variation using Linked-Reads

P Marks, S Garcia, AM Barrio, K Belhocine… - Genome …, 2019 - genome.cshlp.org
Large-scale population analyses coupled with advances in technology have demonstrated
that the human genome is more diverse than originally thought. To date, this diversity has …

Next generation sequencing methods for diagnosis of epilepsy syndromes

P Dunn, CL Albury, N Maksemous, MC Benton… - Frontiers in …, 2018 - frontiersin.org
Epilepsy is a neurological disorder characterized by an increased predisposition for
seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses …

Methodologies for transcript profiling using long-read technologies

S Oikonomopoulos, A Bayega, S Fahiminiya… - Frontiers in …, 2020 - frontiersin.org
RNA sequencing using next-generation sequencing technologies (NGS) is currently the
standard approach for gene expression profiling, particularly for large-scale high-throughput …