Sentences with phrase «genomic sequencing results»

Topics at «Genetics — Moving to the Center of Healthcare» include the role of genomic testing in guiding cancer treatment, approaches to helping families that are coping with genetic diagnoses, and interpretation and use of genomic sequencing results in the newborn population.

255/3: 15 Communication and management of genomic sequencing results by non-geneticist physicians.

Competitors have been tasked with discovering the unknown genetic basis of the disorders faced by three pediatric patients and, in the process, create best practices for interpreting and presenting genomic sequence results to patients and their families and physicians in meaningful ways that can help guide healthcare decisions.

Not exact matches

Scientists at the University of Maryland have developed a new, web - based tool that enables researchers to quickly and easily visualize and compare large amounts of genomic information resulting from high - throughput sequencing experiments.

Without this approach, the results of genomic sequencing would have been swamped with DNA from normal cells, making it difficult to detect cancer - linked DNA errors, Papp says.

They conducted complete genomic sequencing of all genes implicated in breast cancer on DNA samples from breast cancer patients who had normal BRCA1 and BRCA2 commercial test results.

However, genomic sequencing, combined with epidemiological investigation, indicated that the cases did not represent a re-introduction from a neighboring country, but instead were the result of virus transmission from a «persistently infected» source within Liberia — meaning, for example, a disease survivor who continued to carry the virus for several months.

The results, published in the journal Nature Biotechnology, reveal that the small, accessible and cost effective technology could revolutionize genomic sequencing.

After selection, the mutant CK123 (bottom) was generated and the genomic segment between primers # 8134 and # 8135 was PCR amplified and the resulting amplicon was sequenced from both directions using nested sequencing primers # 8136 and # 8137.

The advent of accessible and relatively inexpensive high - throughput sequencing technology has resulted in extensive sequencing of whole human genomes or exomes in a research setting and seems likely to lead to an explosion of genomic sequencing in a clinical context.

As a result, we're seeing exome and genome sequencing studies published all over the place, not just in genetics / genomics journals but also many that focus on specific tissues (e.g. blood) or diseases (e.g. cancer, metabolic diseases, vision disorders, you name it).

Sparked from the efforts of the T2D - GENES Consortium (Type 2 Diabetes Genetic Exploration by Next - generation sequencing in multi-Ethnic Samples; T2D - GENES) to aggregate and share results from large - scale T2D sequence and genotype datasets, the prototype T2D KP was built with seed funding from the NIDDK via the T2D - GENES Consortium and the Slim Initiative for Genomic Medicine in the Americas for T2D (SIGMA T2D).

We have generated rich genomic datasets for the scientific community, including an expansive atlas of genetic associations with metabolites, whole - genome sequence and phenotype data for population cohorts in the UK10K project, as well as bioinformatic resources to facilitate the retrieval of information, including a metabolite network, a database of genotype - metabolite associations with our colleagues at the HelmHoltz institute, and a genome browser of UK10K association results.

The resulting datasets of regulatory genomic sequence will provide a valuable resource in determining how non-coding DNA sequence variation may impact an individual's capacity to drive appropriate gene expression.

Building the fourth generation of GATK (GATK4) on Cloudera Enterprise and utilizing the Spark distributed computing framework to speed research, the Broad Institute is facilitating better understanding of genomic sequencing, resulting in faster data exploration and ultimately empowering better clinical decisions.

It is also recommended that the current voluntary restriction on insurers» ability to ask for predictive genetic test results should be renewed, in the light of public concerns over genomic data disclosure to insurers and the risk that this might result in many «refusing their consent to receive additional findings from whole genome sequencing».

Genomic Inheritances: Disclosing Individual Research Results From Whole - Exome Sequencing to Deceased Participants» Relatives The American Journal of Bioethics, 12 (10), 1 - 8 DOI: 10.1080 / 15265161.2012.699138

Hits with a better match in the GenBank nonredundant nucleotide database (NT), corresponding predominantly to human genomic background sequences resulting from misannotations in GenBank, were excluded from the analysis.

As a result, we will soon be able to ask new biological questions — about evolution, minimal genome sequences that support viability under different conditions, and the requirement of specific genomic features such as repeats and introns.

Based on these fine mapping results, the THBS2 gene (59.45 — 59.47 Mb) and neighboring (58.8 — 59.0 Mb) SMOC - 2 gene (exon 1 from SMOC - 2 was unable to be cloned or sequenced) were sequenced in genomic DNA and cDNA from a Boxer (brachycephalic) and a Dalmatian (non-brachycephalic) dog.