Opportunities and challenges in long-read sequencing data analysis

SL Amarasinghe, S Su, X Dong, L Zappia, ME Ritchie… - Genome biology, 2020 - Springer
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …

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 …

BRAKER2: automatic eukaryotic genome annotation with GeneMark-EP+ and AUGUSTUS supported by a protein database

T Brůna, KJ Hoff, A Lomsadze, M Stanke… - NAR genomics and …, 2021 - academic.oup.com
The task of eukaryotic genome annotation remains challenging. Only a few genomes could
serve as standards of annotation achieved through a tremendous investment of human …

GENCODE reference annotation for the human and mouse genomes

A Frankish, M Diekhans, AM Ferreira… - Nucleic acids …, 2019 - academic.oup.com
The accurate identification and description of the genes in the human and mouse genomes
is a fundamental requirement for high quality analysis of data informing both genome …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

Whole-genome annotation with BRAKER

KJ Hoff, A Lomsadze, M Borodovsky… - Gene prediction: methods …, 2019 - Springer
BRAKER is a pipeline for highly accurate and fully automated gene prediction in novel
eukaryotic genomes. It combines two major tools: GeneMark-ES/ET and AUGUSTUS …

The third revolution in sequencing technology

EL Van Dijk, Y Jaszczyszyn, D Naquin, C Thermes - Trends in Genetics, 2018 - cell.com
Forty years ago the advent of Sanger sequencing was revolutionary as it allowed complete
genome sequences to be deciphered for the first time. A second revolution came when next …

Nanopore direct RNA sequencing maps the complexity of Arabidopsis mRNA processing and m6A modification

MT Parker, K Knop, AV Sherwood, NJ Schurch… - Elife, 2020 - elifesciences.org
Understanding genome organization and gene regulation requires insight into RNA
transcription, processing and modification. We adapted nanopore direct RNA sequencing to …

Nanopore native RNA sequencing of a human poly (A) transcriptome

RE Workman, AD Tang, PS Tang, M Jain, JR Tyson… - Nature …, 2019 - nature.com
High-throughput complementary DNA sequencing technologies have advanced our
understanding of transcriptome complexity and regulation. However, these methods lose …

[HTML][HTML] Long-read sequencing emerging in medical genetics

T Mantere, S Kersten, A Hoischen - Frontiers in genetics, 2019 - frontiersin.org
The wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …