Sentences with phrase «novel sequencing technologies»

Using mouse genetics in combination with novel sequencing technologies our lab is able to identify key cell types or candidate factors important for specific remodeling and repair processes of the heart.

Not exact matches

Using a novel combination of technologies, including trio exome sequencing of patient / parental DNA and genetic studies in the tiny larvae of zebrafish, the EuroEPINOMICS RES consortium found that mutations in the gene CHD2 are responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome — a severe form of childhood epilepsy that is in many patients resistant to currently available anti-epileptic drugs.

Biologists and informatics experts are launching a quiet revolution aimed at building better genomes, one made possible by newer sequencing technologies, novel methods for locating sequences on chromosomes, and improved software for piecing DNA together.

NGI Uppsala (SNP&SEQ Technology) platform has developed a novel approach for quick and cost effective whole genome bisulphite sequencing (WGBS) library preparation.

A relatively new technology called exome sequencing has identified a few families with novel mutations in their HD genes.

The SIGMA project aims to develop novel biomedical approaches to treat this devastating disease by applying powerful sequencing technologies to discover the genes and key pathways underlying common varieties of cancer.

«These projects span an impressive spectrum of novel technologies - from sequencing by synthesis to nanopore technology.

More recently, in a joint initiative with the BBMRI - LPC project (Biobanking and Biomolecular Resources Research Infrastructure — Large Prospective Cohorts) and the Wellcome Trust Sanger Institute, the CNAG - CRG launched a call to promote the use of sequencing technologies for the identification of novel causative variants and genes and to molecularly diagnose rare disease patients.

New genome sequencing technologies provide insight into emerging artemisinin - resistance and a novel way to track this public health threat

Using second and third generation sequencing technologies, we aim at generating genomic data of novel bacterial and archaeal lineages, as well as of unchracterized protists.

The design and engineering of advanced solid - state nanopore materials could allow for the development of novel gene sequencing technologies that enable single - molecule detection at low cost and high speed with minimal sample preparation and instrumentation.

«By combining different methods for RNA sequencing with new bioinformatics tools we could find novel sites of nucleotide base exchange, so - called editing», says Jens Lagergren, Professor at the Royal Institute of Technology and group leader at SciLifeLab Stockholm.

His laboratory has also discovered and characterized a significant number of novel genes contributing to autism and human neurodevelopmental disorders, and has recently applied whole - genome sequencing technologies and large - scale genomics datasets to prenatal detection and interpretation of structural variation in the genome.

Novel DNA sequencing technologies with the potential for up to three orders magnitude more sequence throughput than conventional Sanger sequencing are emerging.

With the development of novel genomics technologies, such as Next - Generation Sequencing, numerous new mutations and gene expression signatures have been identified, allowing us to better understand the molecular heterogeneity of hematologic diseases and to better stratify and assess risk for cancer patients.

Novel technologies based on sequencing long molecules and combinations of technologies, promise to stimulate the study of Y - CNVs in the immediate future.

Nanopore sequencing, a novel genomics technology, has potential applications for routine biosurveillance, clinical diagnosis, and outbreak investigation of virus infections.

To do this I will combine novel cell isolation techniques with high - throughput sorting and cutting - edge sequencing technologies.

Running as facility of this size requires a massive amount of support and we work closely with the library preparation team that supplies large numbers of DNA templates in a from ready to be sequenced, the Institute's IT team that maintains the extensive amount of compute and storage infrastructure necessary, sequencing informatics which develops software tools to process, analyse, store and track all the data, projects and samples for the Illumina pipeline and the development team which invents novel and improved protocols to take better advantage of this new technology.