Sentences with phrase «interpretation of genome»

His current work focuses on the development and evaluation of novel molecular biology, sequencing and bioinformatics methods to aid the interpretation of genome and metagenome scale data generated in clinical and public health microbiology.

On April 6, the CNAG organises the workshop Introduction to Genome Analysis to help collaborators get a better understanding and improve interpretation of genome data.

273/6: 00 Detection and interpretation of genome structural variation in GTEx samples.

Catalyse a new generation of research on the genetic basis of drug resistance and of other forms of biological adaptation in pathogen populations, by providing a standard analytical framework for the design and interpretation of genome - wide association studies.

Interpretation of genome sequencing data is a significant challenge because of the volume of genomic data to sift through, as well as the large, growing body of research on molecular drivers of cancer and potential targeted therapies.

They particularly support the interpretation of genome sequence data, which has become a powerful tool in many areas of biology and medicine in the last years.

Not exact matches

We provide our Genomic Sequencing Services at a discounted rate so that you can purchase interpretations of specific regions of your genome on - demand.

Efforts are under way to close the remaining gaps; however, the sequence is of sufficient accuracy and contiguity to be declared substantially complete and to support an initial analysis of genome structure and preliminary gene annotation and interpretation.

He was joined by co-authors Martin Reese, Ph.D., of Omicia Inc., an Oakland, Calif., genome interpretation software company, Stephen L. Guthery, M.D., professor of pediatrics who saw two of the cases in clinic, a colleague at the MD Anderson Cancer Center in Houston, and other U of U researchers.

A similar laissez - faire approach to prenatal whole - genome testing, which might involve the decision to abort a pregnancy based on a personal and possibly inaccurate interpretation of dense and confusing genetic data, could portend tragedy.

The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information.

While there remain challenges in unambiguously determining an individual's genome or exome sequence [1, 2], our focus here is on the downstream interpretation of that sequence.

Major focus areas include human genome interpretation and genetic dissection of novel rare diseases, predictive genomic signatures of response to therapy — especially cancer therapy, and novel sequencing - based assays as biomarkers of disease.

We are also interested in leveraging on transcriptome sequencing to improve the interpretation of the personal genome.

Others will sequence your whole genome for as low as $ 1,000 — but interpretation of those 6 billion letters of genetic code will cost you extra.

In the very near future, sequencing of individual genomes will be inexpensive and ubiquitous, and patients will be looking to the medical establishment for interpretations, insight and advice to improve their health.

Dr. Vamsi guided the development of the NGS analysis and clinical genomics interpretation and reporting software platforms used in research and clinical labs worldwide built on his scientific experience in evolutionary genomics and genome assembly algorithms gained through his work experience and Ph.D at Penn State University.

Our goal is to provide intuitive bioinformatics tools for the visualization, interpretation and analysis of pathway knowledge to support basic research, genome analysis, modeling, systems biology and education.

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.

Yet, our knowledge about the regulation of the genome is generally based on datasets derived from large cell populations that provide an ensemble average interpretation of the biological system and disregard existing cell - to - cell heterogeneity.

We present here the latest developments of the Ensembl project, with a focus on managing an increasing number of assemblies, supporting efforts in genome interpretation and improving our browser.

The Comparative Genomic group focuses on the characterization and interpretation of genomic differences in phenotypically different genomes.