Clinical metagenomic sequencing

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A Crowdsourced Gameplay for Whole-Genome Assembly via Short Reads

Kalpani Anuradha Welivita

Next-generation sequencing has revolutionized the field of genomics by producing accurate, rapid and cost-effective genome analysis with the use of high throughput sequencing technologies. This has intensified the need for accurate and performance efficien ...

2020

Computational study of transcription factor binding sites

Romain Fernand Pietro Groux

Any living organism contains a whole set of instructions encoded as genes on the DNA. This set of instructions contains all the necessary information that the organism will ever need, from its development to a mature individual to environment specific resp ...

EPFL2020

Parallel and Scalable Bioinformatics

Stuart Anthony Byma

The field of genomics is likely to become the largest producer of data as a consequence of the large-scale application of next-generation sequencing technology for biological research and personalized medical treatments. The raw sequence data produced by t ...

EPFL2020

Advanced technological tools to study multidrug resistance in cancer

Sandor Kasas

The complexity of cancer biology and its clinical manifestation are driven by genetic, epigenetic, transcriptomic, proteomic and metabolomic alterations, supported by genomic instability as well as by environmental conditions and lifestyle factors. Althoug ...

CHURCHILL LIVINGSTONE2020

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Jacques Fellay, Alessandro Borghesi

Computational analyses of human patient exomes aim to filter out as many nonpathogenic genetic variants (NPVs) as possible, without removing the true disease-causing mutations. This involves comparing the patient's exome with public databases to remove rep ...

National Academy of Sciences2019

Benchmarking protocols for the metagenomic analysis of stream biofilm viromes

Tom Ian Battin, Hannes Markus Peter, Massimo Bourquin, Jade Brandani, Meriem Bekliz

Viruses drive microbial diversity, function and evolution and influence important biogeochemical cycles in aquatic ecosystems. Despite their relevance, we currently lack an understanding of their potential impacts on stream biofilm structure and function. ...

PeerJ2019

Effect of Fc Receptor Genetic Diversity on HIV-1 Disease Pathogenesis

Jacques Fellay, Christian Axel Wandall Thorball

Fc receptor (FcR) genes collectively have copy number and allelic polymorphisms that have been implicated in multiple inflammatory and autoimmune diseases. This variation might also be involved in etiology of infectious diseases. The protective role of Fc- ...

2019

Fabrication and practical applications of molybdenum disulfide nanopores

Aleksandra Radenovic, Martina Lihter, Ke Liu, Michael Graf, Jiandong Feng, Mukeshchand Thakur

Among the different developed solid-state nanopores, nanopores constructed in a monolayer of molybdenum disulfide (MoS2) stand out as powerful devices for single-molecule analysis or osmotic power generation. Because the ionic current through a nanopore is ...

Nature Publishing Group2019

Identifying microbial species by single-molecule DNA optical mapping and resampling statistics

Theo Lasser, Aleksandra Radenovic, Arno Pino Bouwens, Tomas Lukes, Adrien Charles-François Raymond Descloux, Kristin Stefanie Grussmayer, Jochem Deen

Single-molecule DNA mapping has the potential to serve as a powerful complement to high-throughput sequencing in metagenomic analysis. Offering longer read lengths and forgoing the need for complex library preparation and amplification, mapping stands to p ...

2019

Rapid Screen for Tyrosine Kinase Inhibitor Resistance Mutations and Substrate Specificity

Oliver Hantschel, Sandrine Madeleine Suzanne Georgeon, Sina Maren Reckel

We present a rapid and high-throughput yeast and flow cytometry based method for predicting kinase inhibitor resistance mutations and determining kinase peptide substrate specificity. Despite the widespread success of targeted kinase inhibitors as cancer t ...

AMER CHEMICAL SOC2019