Fidest – Agenzia giornalistica/press agency

Quotidiano di informazione – Anno 32 n° 220

Posts Tagged ‘human genetics’

American Society for Human Genetics 2019 Annual Meeting

Posted by fidest press agency su venerdì, 18 ottobre 2019

Twist Bioscience Corporation (NASDAQ: TWST), a company enabling customers to succeed through its offering of high-quality synthetic DNA using its silicon platform, announced the presentation of new customer, company and collaborator data using the Twist Bioscience target enrichment and library preparation products for next-generation sequencing (NGS). In addition, Twist Bioscience will showcase the results of adding formalin-fixed paraffin-embedded (FFPE) and saliva sample preparation workflows with its NGS products, resulting in uniform sequence coverage of the target area of interest within the genome.
The company also released new data combining sample preparation solutions integrated with the Twist Bioscience library preparation and target enrichment workflow, as well as a new fixed custom panel to conduct target enrichment of the mitochondrial DNA. Library construction for NGS using FFPE samples offers unique challenges in acquiring high-quality sequencing data due to wide distribution of sample quality. Differences in formalin fixation methods, storage conditions, and age lead to crosslinked and/or degraded nucleic acid and inconsistent extraction yields. Therefore, FFPE extraction and library construction methods must be carefully considered for target enrichment applications. In collaboration, Covaris and Twist Bioscience demonstrate a complete library preparation and target enrichment solution that generates ready-to-sequence multiplexed libraries directly from FFPE tissue of various qualities. Specifically, the truXTRAC kit and adaptive focused acoustics (AFA) technology from Covaris generate size specific DNA libraries from FFPE samples that, when paired with Twist Bioscience’s Library Preparation and Human Core Exome Kit, deliver multiplexed libraries for high performance targeted sequencing.

Posted in Estero/world news | Contrassegnato da tag: , , | Leave a Comment »

Asuragen parteciperà alla conferenza 2019 of European Society of Human Genetics

Posted by fidest press agency su giovedì, 13 giugno 2019

Asuragen, Inc,. azienda di diagnostica molecolare che realizza prodotti di facile uso per analisi complesse di genetica e oncologia, ospiterà una riunione aziendale via satellite e la sua tecnologia AmplideX® figurerà in molti poster scientifici all’imminente conferenza ESHG che si terrà in Svezia, a Gothenburg dal 15 al 18 giugno.
La riunione aziendale via satellite, “Gettare un raggio di luce sul DNA scuro: soluzioni semplici e acute per SMN1/2 Determinazione del numero copia, espansioni HTT e altro…”, mostrerà le più recenti aggiunte alla famiglia AmplideX di prodotti. Márcia Oliveira, PhD, ErCLG, Centro Hospitalar do Porto E.P.E. Centro de Genetica Medica Doutar Jacinto de Magalhaes in Porto (Portogallo) metterà a disposizione la sua esperienza di laboratorio nel valutare il kit AmplideX PCR/CE SMN1/2, che determina il numero di copia sia per SMN1 che per SMN2 in una singola reazione PCR in meno di quattro ore. Inoltre il dott. Ferdinando Squitieri, PhD, responsabile del Neurology CSS-Mendel Institute of Human Genetics e capo dell’IRCCS, unità malattia di Huntington e malattie rare a Roma, esaminerà le prospettive sia cliniche che di laboratorio sulla malattia di Huntington e come il kit AmplideX PCR/CE HTT agevola la scoperta e la valutazione delle espansioni del trinucleotide CAG nel gene HTT. Il simposio avrà luogo domenica 16 giugno dalle 11:15 alle 12:45 al centro svedese mostre e congressi di Gothenburg nell’aula A2.Alla riunione verranno presentati quattro poster che illustrano gli ultimi sviluppi di Asuragen entro il portafoglio prodotti AmplideX in rapida crescita e i continui sforzi a sostegno della comunità ricerche genetiche.Durante la sessione poster del gruppo B verranno presentati due poster dalle 16:45 alle 17:45 di domenica 16 giugno.
Asuragen è una società produttrice di dispositivi di diagnostica molecolare in grado di rivoluzionare il modo in cui i pazienti vengono trattati in ambito genetico e oncologico. I sistemi diagnostici di Asuragen, costituiti da software e tecnologie chimiche brevettati, offrono risposte efficaci attraverso l’utilizzo di piattaforme strumentali installate su vasta scala. Di facile adozione, consentono un maggiore soddisfacimento delle esigenze dei pazienti.

Posted in Estero/world news | Contrassegnato da tag: , , | Leave a Comment »

Human Genetics Centre at University of Oxford Deploys Univa Solutions

Posted by fidest press agency su giovedì, 16 novembre 2017

oxford universityOxford. Univa®, a leading innovator of workload management products, today announced its Univa Grid Engine distributed resource management system is powering the Wellcome Centre for Human Genetics’ (WHG) high performance computing (HPC) environment.WHG is a research institute within the Nuffield Department of Medicine at the University of Oxford. The Centre is an international leader in genetics, genomics, statistics and structural biology with more than 400 researchers and 70 administrative and support personnel. WHG’s mission is to advance the understanding of genetically-related conditions through a broad range of multi-disciplinary research.
To support its research community, the Centre operates a shared HPC cluster comprising over 4,000 InfiniBand-connected, high-memory compute cores and 4PB of high performance, parallel storage running 250 applications. WHG’s previous open source scheduler lacked practical software support and did not address the increasing use of containerized machine learning applications. To plan for growth and accommodate mixed workload types (serial-batch, array, MPI, container, Spark) on the same shared cluster, the Centre evaluated a variety of open source and commercial options. The review committee awarded Univa Grid Engine as the replacement, citing its modern scheduler, expert technical support and minimal user re-training for its selection.“The conversion from the previous scheduler to Univa Grid Engine was virtually painless. Our users are happy that their hard-won knowledge continues to be relevant, significant scheduler bugs and vulnerabilities were fixed, and we also save on our own precious system administration time,” said Dr. Robert Esnouf, Head of Research Computing Core, Wellcome Centre for Human Genetics. “We can now plan for significant future growth with Univa as a key component of our infrastructure offering.”The transition to Univa Grid Engine also provided WHG with new capabilities like GPU-aware scheduling, DRMAA2, and container support, placing WHG in a position to embrace emerging research techniques and support a wider range of research. To learn more how WHG expanded workloads for their life-science research, download this detailed case study.

Posted in Medicina/Medicine/Health/Science, Università/University | Contrassegnato da tag: , , | Leave a Comment »