Sentences with phrase «by whole genome sequencing»

I mainly work on data generated by whole genome sequencing, whole exome sequencing, targeted resequencing, RNA - seq and Nanopore Sequencing using MinION.

Dr. Johnson's proposal, entitled «Identification of Mutations Responsible for Progressive Retinal Atrophy in TTs by Whole Genome Sequencing» can be seen on the TTWHF website.

The findings of this study will provide valuable insight about how best to present information generated by whole genome sequencing to optimize patient care and minimize the unnecessary use of limited healthcare resources.

Characterization of clinically - attenuated Burkholderia mallei by whole genome sequencing: candidate strain for exclusion from Select Agent lists.

«The CDC and the U.S. Food and Drug Administration have advanced methods for detecting and typing foodborne outbreaks by whole genome sequencing harmful bacteria,» Doyle said.

They digested human genomic DNA using Cas9 nucleases in a test tube, which was then subjected by whole genome sequencing.

Not exact matches

By increasing the speed and accuracy for NGS data analysis like whole genome sequencing (WGS), our computing platform makes it easier to discover links between DNA sequence variations and human disease.»

Whole - genome sequencing identifies inherited noncoding variants in families affected by autism spectrum disorder.

The new method by Garaycochea and colleagues will enable researchers to strategically analyze this whole - genome sequence data and assemble the chloroplast genome for their plant of interest.

For the first time, scientists have shown that MRSA (methicillin - resistant Staphylococcus aureus) and other antibiotic - resistant «superbug» infections can be tracked across Europe by combining whole - genome sequencing with a web - based system.

While the first whole genome sequence was completed in 2001 at a cost of $ 500 million, by 2014, we may finally see the $ 999 genome.

Described in the January 7th issue of Neuron, the technique uses «deep,» highly sensitive whole - genome sequencing of single neurons and a new technology that identifies inserted bits of DNA caused by retrotransposons, one of several kinds of so - called somatic mutations that can arise as the brain develops.

Now, by sequencing the whole genomes of over 1,000 isolates of mycobacteria from 517 individuals attending CF specialist centres in Europe, the US and Australia, researchers have demonstrated that the majority of CF patients have acquired transmissible forms of M. abscessus that have spread globally.

Even with whole genomes, some of the earliest branches in Neoaves proved challenging to resolve, which was best explained by massive protein - coding sequence convergence and high levels of incomplete lineage sorting that occurred during a rapid radiation after the Cretaceous - Paleogene mass extinction event about 66 million years ago.

Whole genome sequencing of modern and ancient horses unveils the genes that have been selected by humans in the process of domestication through the latest 5,500 years, but also reveals the cost of this domestication.

Together, all five RMs serve as a collection of well - characterized, whole genome standards that can tell a laboratory how well its DNA sequencing processes are working by measuring the performance of the equipment, chemistry and data analysis involved.

These clumps of genes are flanked on each end by DNA sequences known as mobility units, which make them prone to moving between genomes as a whole.

Taking a major step toward that goal, one fraught with therapeutic potential and ethical questions, scientists have now accurately predicted almost the whole genome of an unborn child by sequencing DNA from the mother's blood and DNA from the father's saliva.

The significant overall sequence divergence of TMAdV from known human and simian adenoviruses is highlighted by the finding that PAdV - A (porcine adenovirus A), a non - primate mammalian adenovirus, shared only a slightly less similar whole - genome pairwise identity to TMAdV of 47.0 % (Fig. 4).

The case highlights concerns that a network of individual gene patents could threaten the future of personalized medicine and whole - genome sequencing by blocking companies and clinicians from reporting a patient's genetic risk factors for different diseases.

His analysis was backed up by Nicholson Price, an academic fellow at Harvard Law School in Cambridge, Massachusetts, who found that few, if any, DNA patents would be infringed by companies or clinics sequencing whole genomes of individuals for medical insight.

The whole genome and RNA sequencing data were analyzed by a team of bioinformaticians and oncologists at the NYGC as well as a beta version of IBM Watson for Genomics, an automated system for prioritizing somatic variants and identifying potential therapies.

The findings not only validate the systematic approach to whole - genome sequencing in clinics, they also demonstrate that de novo mutations, otherwise known as spontaneous mutations not inherited by parents, are the main cause of this severe type of epilepsy.

The programme was first initiated in 2004 to selectively sequence the hypomethylated regions of the genome, and was subsequently expanded to the whole genome, facilitated by advancements in sequencing technologies and bioinformatics.

Adaptation and possible ancient interspecies introgression in pigs identified by whole - genome sequencing Ai, H., X. Fang, B. Yang, Z. Huang, H. Chen et al. 2015.

This project indicated that not only a vast number of novel potentially functional variants in a total of 231 pharmacogenes was identified but also demonstrated the value of whole - genome sequencing for pharmacogenomic testing by capturing over 18,000 variants per individual in these pharmacogenes.

Now, a greater effort to understand its ecological and population history has been made possible by the first, whole - scale genome sequencing efforts of 57 platypuses across Eastern Australia and Tasmania.

The presence of these SNPs was further validated by whole - genome sequencing of the bsl1 - 1 mutant genome to 30 × coverage (Supplemental Data Set 1).

Identification of Suppressors of mbk - 2 / DYRK by Whole - Genome Sequencing.

The whole genome sequencing was performed by the Genomics platform here at SciLifeLab.»

By comparing the whole genome sequence of the lab - cultured resistant strain with a sibling strain that had not been exposed to the drug, they were able to identify several mutations of interest in a number of genes.

Chowdhury and his colleagues found that for all six infants, who suffered from a variety of often exceedingly rare genetic disorders, sequencing their whole genomes led to a reduction in the length of stay in the NICU by 124 days compared to control cases and reports from the scientific literature, in which standard array or panel - based genetic testing may be used.

The Alzheimer Disease Sequencing Project (ADSP) Family Based Study The ADSP has generated whole genome sequence (WGS) data from members of families multiply affected by late onset Alzheimer's disease (LOAD).

This study also represents one of the largest surveys of breast cancer by next - gen sequencing, certainly by whole - genome sequencing.

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole - genome sequencing Nature DOI: 10.1038 / nature10738

Another distinctive genetic feature of mucosal melanoma is its high rate of copy number and structural variants, demonstrated both by array - based comparative genomic hybridization and whole - genome sequencing.

In addition, the researchers calculated that rapid whole genome sequencing (rWGS) reduced the costs associated with the babies» treatment by about $ 1.8 million.

In this study, we sequenced the whole genome of DNA in whole blood of two pairs of monozygotic (MZ) twins, 40 and 100 years old, by two independent next - generation sequencing (NGS) platforms.

What are the analytical and clinical validity and the clinical utility of in vitro screening of embryos by whole - genome sequencing?

Whole - genome sequencing (WGS) marks the final step in increasing genetic marker density by assaying all single - nucleotide variants (SNVs), and thus has the potential to further improve relationship detection by enabling more accurate detection of IBD segments and more precise resolution of IBD segment boundaries.

DNA from two large families affected by EDs was collected, and mutations segregating with illness were identified by whole - genome sequencing following linkage mapping or by whole - exome sequencing.

Although the 100,000 Genomes Project, delivered by the Department of Health and Social Care wholly owned company Genomics England, has taken longer than originally intended, the halfway mark of 50,000 whole genome sequences was passed earlier this year, and Chair Sir John Chisholm has said that the full 100,000 will be complete by the end of 2018.

Whole - genome sequencing is becoming commonplace, but the accuracy and completeness of variant calling by the most widely used platforms from Illumina and Complete Genomics have not been reported.

In this study, using whole - genome DNA sequencing (WGS) and confirmation by Sanger sequencing, we observed mutations identified in several genes not previously known to be recurrently altered in SMZL.

Candidate genes and genetic architecture revealed by whole - genome, sequence - based association genetics in Medicago truncatula.

The team plans to accomplish this goal by expanding whole genome or exome sequencing for patients, using patient - derived cells to discover new disease mechanisms, and personalized drug library screening.

Whole Genome Sequencing Not Informative for All A study involving data of thousands of identical twins by Johns Hopkins investigators finds that whole genome sequencing fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test resWhole Genome Sequencing Not Informative for All A study involving data of thousands of identical twins by Johns Hopkins investigators finds that whole genome sequencing fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test reGenome Sequencing Not Informative for All A study involving data of thousands of identical twins by Johns Hopkins investigators finds that whole genome sequencing fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome tesSequencing Not Informative for All A study involving data of thousands of identical twins by Johns Hopkins investigators finds that whole genome sequencing fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test reswhole genome sequencing fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test regenome sequencing fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome tessequencing fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test regenome test results.

Given the pressing need to better understand this growing public health threat, our team in the Broad Fungal Genomics group (led by Christina Cuomo)-- in partnership with Anastasia Litvintseva at U.S. Centers for Disease Control and Prevention (CDC) and institutions around the globe — have examined outbreak isolates using whole - genome sequencing.

Surprisingly, whole genome sequencing revealed that the coastal region harbours a hybrid form characterised by an A. gambiae - like sex chromosome and massive introgression of A. coluzzii autosomal alleles.

Four putative - outbreak ST82 isolates were retrospectively subjected to whole genome sequencing (WGS) followed by phylogenetic analyses with epidemiologically unrelated ST82 sequences.