Sentences with phrase «whole genome sequencing in»

Her current role focuses on advancing the use of whole genome sequencing in clinical care by providing access and education to healthy individuals through the... Understand Your Genome programs, MyGenome visualization software, and other research initiatives.

Complex Structural Variants Resolved by Short - Read and Long - Read Whole Genome Sequencing in Mendelian Disorders

Professor George Patrinos (University of Patras, Greece) gave an update on the use of whole genome sequencing in pharmacogenomics, which followed by several company lectures that supported the event as sponsors.

350/12: 15 Leveraging whole genome sequencing in an internal study - specific imputation reference panel for family - based designs.

The report recommends that NHSE should perform a detailed evaluation of the project «to inform an assessment of the anticipated clinical - and cost - effectiveness of routine whole genome sequencing in the NHS», but also notes that research and evidence gathering will need to be ongoing processes.

He recently published the first randomized trial to assess appropriateness of care and downstream medical costs of whole genome sequencing in primary care.

The Government should formally evaluate the 100,000 Genomes Project to inform the wider introduction of whole genome sequencing in the NHS.

Meanwhile, the report proposes that decisions on when to provide whole genome sequencing in place of conventional alternative diagnostic tests «should take into account the digital infrastructure available».

It also discusses the various new trends in the pharmacogenomics field, such as pharmacometabolomics - aided pharmacogenomics and the application of whole genome sequencing in pharmacogenomics.

Chowdhury tells The Scientist that his group at Rady Children's, which has performed rWGS on about 150 infants, is «in talks with multiple children's hospitals» around the U.S. in the hopes that many more children in NICUs will have their whole genomes sequenced in the near future.

Not exact matches

Veritas Genetics acquires Curoverse — Veritas Genetics, a leader in whole - genome sequencing, has acquired computing and bio-informatics firm Curoverse for an undisclosed amount.

In the absence of a lucrative market, the X Prize's contest will give companies doing whole - genome sequencing a boost.

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

In new research, published in the journal FEBS Letters, scientists at the Quadram Institute carried out a search of the National Centre for Biotechnology Information's Whole Genome Sequence databasIn new research, published in the journal FEBS Letters, scientists at the Quadram Institute carried out a search of the National Centre for Biotechnology Information's Whole Genome Sequence databasin the journal FEBS Letters, scientists at the Quadram Institute carried out a search of the National Centre for Biotechnology Information's Whole Genome Sequence database.

In 2014, biologists published an avian tree based on the sequences of whole genomes of about 40 species.

Now that the whole Neanderthal genome has been sequenced, Harvard geneticist George Church thinks a clone could be gestated in a human surrogate mother.

«These predictive algorithms seem to do a good job when CRISPR is performed in cells or tissues in a dish, but whole genome sequencing has not been employed to look for all off - target effects in living animals,» says co-author Alexander Bassuk, MD, PhD, professor of pediatrics at the University of Iowa.

To address this gap in knowledge, Mirabello and Schiffman teamed up with co-senior author Robert Burk of Albert Einstein College of Medicine to sequence the whole genomes of 5,570 HPV16 - infected cell and tissue samples from women around the world and to identify associations between HPV16 genetic variants and the risk of cervical precancer and cancer.

Using advanced sequencing technologies, University of Oklahoma anthropologists demonstrate that human DNA can be significantly enriched from dental calculus (calcified dental plaque) enabling the reconstruction of whole mitochondrial genomes for maternal ancestry analysis — an alternative to skeletal remains in ancient DNA investigations of human ancestry.

Whole - genome sequencing is the combination: everything in detail.

They sequenced the first whole animal, the flatworm, in 1998, and then pushed the systems to handle big chunks of bigger genomes — billions of base pairs.

In January, the 99 Lives Cat Whole Genome Sequencing Initiative began collecting DNA samples from cats worldwide.

Whole - genome sequencing was used to study the differences in some of the major ethnolinguistic groups in the country.

In a recent endometrial cancer study you led, whole genome sequencing turned up mutations that had never been seen in that diseasIn a recent endometrial cancer study you led, whole genome sequencing turned up mutations that had never been seen in that diseasin that disease.

«Studies like the current one involving rhabdomyosarcoma are giving us a close - up look at the way cancer evolves in response to treatment,» said study co-author Richard K. Wilson, Ph.D., director of The Genome Institute at Washington University School of Medicine in St. Louis, where scientists have extensive expertise analyzing tumor recurrence using whole - genome sequeGenome Institute at Washington University School of Medicine in St. Louis, where scientists have extensive expertise analyzing tumor recurrence using whole - genome sequegenome sequencing.

In the paper, the scientists show that combining the drug - resistance profile of a bacteria with its whole - genome DNA sequence allowed them to build up a series of drug - resistance «DNA photofits» for resistance to specific drugs.

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.

Using whole genome sequencing technology, researchers from The Netherlands have now succeeded in determining that at least 6.5 % of de novo mutations occur during the development of the child (post-zygotic) rather than from the germline of a parent.

The team integrated three, complementary gene sequencing approaches to look for mutations in tumor cells from SS patients: whole - genome sequencing in six subjects, sequencing of all protein - coding regions (exomes) in 66 subjects, and comparing variation in the number of copies of all genes across the genome in 80 subjects.

With more work, the technique could be used to sequence millions of longer DNA strands in parallel, slashing the cost of sequencing a whole mammalian genome.

To confirm and strengthen the findings, Zwick and his team are currently performing an independent study of individuals with Down syndrome, using whole genome sequencing to further delineate alterations in genes that perturb heart development in children.

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

In natural, unaltered organisms, she explains, each sequence of DNA in a genome codes for a particular outcome, expressed as a protein that determines a quality of the individual or even the species as a wholIn natural, unaltered organisms, she explains, each sequence of DNA in a genome codes for a particular outcome, expressed as a protein that determines a quality of the individual or even the species as a wholin a genome codes for a particular outcome, expressed as a protein that determines a quality of the individual or even the species as a whole.

In Hollywood terms, a marriage of blockchain, the technology created to track the bitcoin digital currency, and whole genome sequencing is a supercouple.

Therefore, Danny Miller, an MD - PhD student at the University of Kansas Medical Center who is conducting his doctoral research in the Hawley lab, had to rely on whole genome sequencing and new computer algorithms to pinpoint the locations of both kinds of events.

In what was originally a separate line of investigation, David Baker and Taane Clark and colleagues at the London School of Hygiene & Tropical Medicine and the Wellcome Trust Sanger Institute analyzed the whole - genome sequences of two P. falciparum laboratory strains that they knew were unable to produce gametocytes.

In addition, while innovators are trying to lower the cost of whole - genome sequencing to less than $ 1,000, it's possible that gene patents may add to the cost.

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.

Therefore, whole genome sequencing was performed on a total of 76 patient isolates, including up to two repeat isolates from patients who tested positive for MRSA in the first screen.

Now, in a series of recent studies, scientists at the University of Missouri are using whole genome sequencing through the 99 Lives Cat Genome Sequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domesticgenome sequencing through the 99 Lives Cat Genome Sequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domesequencing through the 99 Lives Cat Genome Sequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domesticGenome Sequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domeSequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domestic cats.

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.

In another study representing the first time precision medicine has been applied to feline health, Lyons and her team used whole genome sequencing and the 99 Lives consortium to identify a lysosomal disorder in a 36 - week - old silver tabby kitten that was referred to the MU Veterinary Health CenteIn another study representing the first time precision medicine has been applied to feline health, Lyons and her team used whole genome sequencing and the 99 Lives consortium to identify a lysosomal disorder in a 36 - week - old silver tabby kitten that was referred to the MU Veterinary Health Centein a 36 - week - old silver tabby kitten that was referred to the MU Veterinary Health Center.

Using high - throughput sequencing of whole genomes will also be key in finding other kinds of genetic variation involved in autism, Grice explained.

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.

Eager to get the record straight, Laurent Frantz, now a bioinformaticist at the University of Oxford in the United Kingdom, carried out sophisticated computer analyses of 103 whole genomes sequenced from wild boars and domesticated pig breeds from all over Europe and Asia.

Using whole - genome sequencing, they looked at rare genetic variants in modern - day British populations and compared them with variants in the DNA of 10 ancient skeletons.

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.

In the September issue of G3, Cuomo et al. unveil the first whole - genome sequence of a clinical sample of C. krusei, providing leads on genes that may be important for the species» fluconazole resistance.

This is one of the first population genomics analyses to use high - coverage whole - genome sequencing in pigs, each individual has been sequenced more than 20-fold depth with the genome coverage of 95 %.

In this study, researchers collected a Chinese alligator sample from Changxing Yinjiabian Chinese Alligator Nature Reserve (Zhejiang Province, China) and sequenced its genome using a whole - genome shotgun strategy.