Concept

Exome sequencing

Related publications (253)

Parallel and Scalable Bioinformatics

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

Genomic Analysis of European Drosophila melanogaster Populations Reveals Longitudinal Structure, Continent-Wide Selection, and Previously Unknown DNA Viruses

Bart Deplancke

Genetic variation is the fuel of evolution, with standing genetic variation especially important for short-term evolution and local adaptation. To date, studies of spatiotemporal patterns of genetic variation in natural populations have been challenging, a ...

2020

Genetic spectrum of retinal dystrophies in Tunisia

Imen Habibi

We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype-phenotype correlations. A subset of 26 families from a cohort of 73 f ...

2020

Optimised biomolecular extraction for metagenomic analysis of microbial biofilms from high-mountain streams

Tom Ian Battin, Hannes Markus Peter, Susheel Bhanu Busi, Jade Brandani, Stylianos Fodelianakis, Paraskevi Pramateftaki

Glacier-fed streams (GFS) are harsh ecosystems dominated by microbial life organized in benthic biofilms, yet the biodiversity and ecosystem functions provided by these communities remain under-appreciated. To better understand the microbial processes and ...

PEERJ INC2020

Interbacterial competition and anti‐predatory behavior of environmental Vibrio cholerae strains

Melanie Blokesch, Natalia Carolina Drebes Dorr

Vibrio cholerae isolates responsible for cholera pandemics represent only a small portion of the diverse strains belonging to this species. Indeed, most V. cholerae are encountered in aquatic environments. To better understand the emergence of pandemic lin ...

2020

Seascape Genomics of the Sugar Kelp Saccharina latissima along the North Eastern Atlantic Latitudinal Gradient

Chloé Christiane Laurence Jollivet, Stéphane Mauger

Temperature is one of the most important range-limiting factors for many seaweeds. Driven by the recent climatic changes, rapid northward shifts of species' distribution ranges can potentially modify the phylogeographic signature of Last Glacial Maximum. W ...

MDPI2020

A meta-learning approach for genomic survival analysis

Arnout Jan J Devos

RNA sequencing has emerged as a promising approach in cancer prognosis as sequencing data becomes more easily and affordably accessible. However, it remains challenging to build good predictive models especially when the sample size is limited and the numb ...

NATURE RESEARCH2020

New 2-Ethylthio-4-methylaminoquinazoline derivatives inhibiting two subunits of cytochrome bc1 in Mycobacterium tuberculosis

Stewart Cole, Andrej Benjak, Anthony Vocat, Jérémie Piton, Shi-Yan Caroline Foo, Andréanne Lupien

The emergence of multi-drug (MDR-TB) and extensively-drug resistant tuberculosis (XDR-TB) is a major threat to the global management of tuberculosis (TB) worldwide. New chemical entities are of need to treat drug-resistant TB. In this study, the mode of ac ...

2020

Comprehensive analysis of PM20D1 QTL in Alzheimer's disease

Johannes Gräff, Liliane Glauser, Jose Vicente Sanchez Mut

Background Alzheimer's disease (AD) is a complex disorder caused by a combination of genetic and non-genetic risk factors. In addition, an increasing evidence suggests that epigenetic mechanisms also accompany AD. Genetic and epigenetic factors are not ind ...

BMC2020

High-throughput DNA barcoding of oligochaetes for abundance-based indices to assess the biological quality of sediments in streams and lakes

Benoît Jean Dominique Ferrari, Régis Lionel Vivien

Aquatic oligochaete communities are valuable indicators of the biological quality of sediments in streams and lakes, but identification of specimens to the species level based on morphological features requires solid expertise in taxonomy and is possible o ...

2020

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