Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing

P Giesselmann, B Brändl, E Raimondeau… - Nature …, 2019 - nature.com
Expansions of short tandem repeats are genetic variants that have been implicated in
several neuropsychiatric and other disorders, but their assessment remains challenging with …

GenMap: ultra-fast computation of genome mappability

C Pockrandt, M Alzamel, CS Iliopoulos… - Bioinformatics, 2020 - academic.oup.com
Motivation Computing the uniqueness of k-mers for each position of a genome while
allowing for up to e mismatches is computationally challenging. However, it is crucial for …

Rapid detection of inter-clade recombination in SARS-CoV-2 with Bolotie

A Varabyou, C Pockrandt, SL Salzberg, M Pertea - Genetics, 2021 - academic.oup.com
The ability to detect recombination in pathogen genomes is crucial to the accuracy of
phylogenetic analysis and consequently to forecasting the spread of infectious diseases and …

PureCLIP: capturing target-specific protein–RNA interaction footprints from single-nucleotide CLIP-seq data

S Krakau, H Richard, A Marsico - Genome biology, 2017 - Springer
The iCLIP and eCLIP techniques facilitate the detection of protein–RNA interaction sites at
high resolution, based on diagnostic events at crosslink sites. However, previous methods …

[HTML][HTML] Rapid next-generation sequencing–based diagnostics of bacteremia in septic patients

C Grumaz, A Hoffmann, Y Vainshtein, M Kopp… - The Journal of Molecular …, 2020 - Elsevier
The increasing incidence of bloodstream infections including sepsis is a major challenge in
intensive care units worldwide. However, current diagnostics for pathogen identification …

[PDF][PDF] Software engineering for scientific big data analysis

BA Grüning, S Lampa, M Vaudel, D Blankenberg - GigaScience, 2019 - academic.oup.com
The increasing complexity of data and analysis methods has created an environment where
scientists, who may not have formal training, are finding themselves playing the impromptu …

Porechop_ABI: discovering unknown adapters in Oxford Nanopore Technology sequencing reads for downstream trimming

Q Bonenfant, L Noé, H Touzet - Bioinformatics Advances, 2023 - academic.oup.com
Abstract Motivation Oxford Nanopore Technologies (ONT) sequencing has become very
popular over the past few years and offers a cost-effective solution for many genomic and …

Demeter: A fast and energy-efficient food profiler using hyperdimensional computing in memory

T Shahroodi, M Zahedi, C Firtina, M Alser… - IEEE …, 2022 - ieeexplore.ieee.org
Food profiling is an essential step in any food monitoring system needed to prevent health
risks and potential frauds in the food industry. Significant improvements in sequencing …

Adept: a domain independent sequence alignment strategy for gpu architectures

MG Awan, J Deslippe, A Buluc, O Selvitopi… - BMC …, 2020 - Springer
Background Bioinformatic workflows frequently make use of automated genome assembly
and protein clustering tools. At the core of most of these tools, a significant portion of …

Hierarchical Interleaved Bloom Filter: enabling ultrafast, approximate sequence queries

S Mehringer, E Seiler, F Droop, M Darvish, R Rahn… - Genome Biology, 2023 - Springer
We present a novel data structure for searching sequences in large databases: the
Hierarchical Interleaved Bloom Filter (HIBF). It is extremely fast and space efficient, yet so …