Sentences with phrase «targeted sequencing of the genes»

Sarah Weckhuysen and colleagues report a study based on targeted sequencing of the genes encoding the components of the GATOR1 (DEPDC5, NPRL2, and NPRL3) and GATOR2 (MIOS, SEC13, SEH1L, WDR24, and WDR59) complex in European probands with focal epilepsy with or without focal cortical dysplasia.

The Myriad Genetics patents on BRCA1 / BRCA2 testing, even when enforceable, covered only the targeted sequencing of those genes in cancer patients.

Not exact matches

That's not to say gene editing is new (it isn't), but Crispr simplifies the process by using molecular scissors that can be precisely targeted to snip out aberrant regions of genetic code, which can then be replaced with the correct sequences.

In the study, whole - exome sequencing and a targeted analysis of 90 genes implicated in heart disease were applied to 419 unrelated SIDS cases.

In addition, they also used exome sequencing and RNAseq — sequencing directly targeted to the SHIP1 gene — to examine the structure of the SHIP1 gene at both the DNA and the RNA level.

A local philanthropist underwrote purchase of a new Illumina MiSeq device that facilitates targeted gene sequencing.

First described in the 1990s — a discovery that led to the 2006 Nobel Prize — RNAi is a process by which organisms suppress the expression of target genes through the action of small RNA segments that bind to corresponding gene sequences.

In addition, it binds to the promoter sequences (dark blue) of specific target genes including mitochondrial fission process 1, MTFP1.

Unlike whole - genome sequencing, this assay targets a select set of genes or regions with known associations with lymphoid cancer, allowing for more rapid detection of a variety of mutations.

One general benefit of the RNAi approach, Zhang says, is that researchers can selectively target specific insect pests by targeting species - specific gene sequences; this avoids the blanket destruction of other insect species seen with many insecticides, he explains.

The gene that codes for this clotting protein has a very similar sequence across many plant species, and the researchers showed that the microRNA from dodder targets regions of the gene sequence that are the most highly conserved across plants.

«In addition, many of the high - frequency sequences span genes involved in the immune system, which is a frequent target of adaptive evolution.»

Choudhury used high - throughput sequencing technology to find the targets of DAZAP1 and decipher whether DAZAP1 would bind to the exons and introns of genes.

Derived mostly from human embryonic kidney 293T (HEK293T) and HeLa cell lines, EdiGene Knockout (KO) Cell Lysates have been optimized through the use of genome editing technology and validated at the genomic level through PCR and Sanger - sequencing techniques to ensure the accuracy and knockout of the target gene.

Extensive research has already examined the function of microRNAs, a category of small evolutionarily conserved noncoding RNAs about 22 to 24 nucleotides in length that target protein - coding genes in a sequence - specific manner.

Furthermore, besides offering valuable insight into the function of this novel RNA type, the researchers also believe that the findings will open new avenues for novel treatments in which cell - specific enhancer sequences can be targeted to alter gene expression.

The brothers got the idea for the drug - gene interaction database after they repeatedly were asked whether lists of genes identified through cancer genome sequencing could be targeted with existing drugs.

Wall then isolated those fungi and sequenced the gene FKBP12 — the target of FK506 — to look for mutations that would confer drug resistance.

By using faster sequencing machines and targeting only one highly variable part of the rRNA gene, he and his team can sequence 200,000 pieces of DNA from a single liter.

The convergence of several factors explains the trend: cheaper genetic sequencing technologies, the discovery of new oncogenes (genes that can cause a normal cell to become cancerous), a new generation of computers and bioinformatics that can analyze vast amounts of data, and a multibillion - dollar effort by researchers inside and outside the pharma industry to develop targeted drugs and companion diagnostics for cancer.

A series of genetic analyses confirmed that the DNA target sequence had been altered in the transgenic plants, with either DNA insertions or deletions in both copies of the DFR - B gene (so - called bi-allellic mutants).

Canadian researchers conducted a pilot study with 20 newborns to determine the effectiveness of a targeted next - generation sequencing panel that included all 4813 genes currently known to be associated with rare diseases.

While circulating tumor DNA tests targeting a smaller set of cancer genes are already available for use in routine practice to guide care, by covering a much larger number of cancer genes, this high - intensity sequencing approach may enable development of future tests for early detection of cancer.

siRNAs are designed by taking short sequences of the gene to be targeted and converting them into double - stranded RNA.

«Understanding how Cas9 is able to locate specific 20 - base - pair target sequences within genomes that are millions to billions of base pairs long may enable improvements to gene targeting and genome editing efforts in bacteria and other types of cells,» says Doudna who holds joint appointments with Berkeley Lab's Physical Biosciences Division and UC Berkeley's Department of Molecular and Cell Biology and Department of Chemistry, and is also an investigator with the Howard Hughes Medical Institute (HHMI).

Moreover, the ability to easily program sequence - specific DNA targeting and cleavage by CRISPR - Cas components, as demonstrated for Cas9 and Cpf1, allows for the application of CRISPR - Cas components as highly effective tools for genetic engineering and gene regulation in a wide range of eukaryotes and prokaryotes.

He says HGS was getting «diminishing returns» from its investment in TIGR since Venter had steered his outfit into sequencing organisms of little medical importance, and into human genome sequencing, also of limited value for a company like HGS that is interested in genes as drug targets (not untranslated DNA that makes up most of the genome).

«These sequences then become the targets for a far narrower set of follow - up gene function studies in F. graminearum by reverse genetic experimentation to pinpoint the genes essential for the disease - causing abilities of this pathogen.»

Targeted gene therapies, however, had to wait for (1) the identification of the genes to target, (2) the cloning and / or sequencing of the relevant genes and in some cases, the specific disease - causing variant, (3) a full understanding of the normal gene function and regulation, and (4) the development of efficient ways to deliver genes to the relevant tissues at therapeutic levels.

The team designed the PshRNA agent selectively targeting the common sequence of human and mouse (pro) renin receptor genes.

The advent of molecular cloning, DNA sequencing and the many tools of molecular genetics and cell biology has given us sufficient knowledge of the basis for disease and the genes to target, but what has limited the application of gene therapy has been efficient gene delivery systems.

The ZFNs targeting either the cxcr4 or ccr5 genes were linked via a 2A peptide sequence and cloned into the pAdEasy - 1 / F35 vector under control of the CMV TetO promoter, and the Ad5 / F35 virus for each construct was generated using TREx 293T cells as described [33].

Immunizing drives could block the spread of unwanted gene drives by preemptively altering target sequences.

His work centers on developing general, rational approaches to design precision medicines from genome sequences by targeting the RNA product of genes.

Molecular studies of Hox - regulated target genes suggest that these changes occur through accumulation of mutations in regulatory DNA sequences.

We helped with the analysis of targeted 3730 sequencing of some candidate genes in a warfarin patient cohort, and uncovered another gene, (CALU, encoding calumenin) in which variants influenced warfarin dose.

The advancement of the Cas9 - based platform for screening and validation will help further the development of new therapeutic products, and Caribou's CRISPR - Cas9 technology can utilize guide RNAs specific for unique sequences and target a gene at numerous sites and therefore provide enhanced specificity.

Chimeric DNA methyltransferases target DNA methylation to specific DNA sequences and repress expression of target genes.

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.

A Next - Generation Framework: Deciding On The Role Of Costs In The Clinical Use Of Targeted Gene Panels, Exome And Genome Sequencing.

By comparing the effects of multiple sequences, you can determine the extent of off target effects and infer the true biological effect of a gene product.

They also chose a gene target that might itself be problematic, given that it is part of a closely linked family of globin genes with highly related sequences, making it hard to target one without affecting the others.

The sequences of small interfering RNA (siRNA) targeting the human mTOR, AKT1, and 4E - BP1 gene products were purchased from Ambion, Inc. (Austin, TX) and were as follows: mTOR sense GGAGUCUACUCGCUUCUAUTT and antisense AUAGAAGCGAGUAGACUCCTC, AKT1 sense GGGCACUUUCGGCAAGGUGTT and antisense CACCUUGCCGAAAGUGCCCTT, and 4E - BP1 sense GGUACCAGGAUCAUCUAUGTT and antisense CAUAGAUGAUCCUGGUACCTC.

Using an array of techniques, including RNA sequencing and targeted gene expression profiling, the researchers searched for links between gene activity and protein production in these tumors and the clinical outcomes of patients.

With the complete sequence of the N. meningitidis genome in hand, researchers can now choose to target genes that lack switch regions.

They next undertook targeted sequencing of the lysine - 27 residue in all 16 genes that code for H3 isoforms in a validation cohort comprising 43 DIPGs and 36 non-brainstem glioblastomas.

This could be remedied by using a threshold - dependent underdominance gene drive to «recode» specific sequences of a local population, which then could be selectively targeted for removal using a subsequent RNA - guided suppression drive.

Developed in collaboration with the Laboratory Medicine, Information Technology and Health Science Research departments of Mayo Clinic Geneticist Assistant NGS Interpretative Workbench, is a web - based tool for the control, visualization, interpretation and historical knowledge base of next generation sequencing data targeted at specific genes for the purpose of identifying potentially pathogenic variants associated with specific conditions such as hereditary colon cancer.

A targeting vector was designed to contain the Enhanced Yellow Fluorescent Protein gene (from the pEYFP - N1 plasmid, Clonetech) downstream of a loxP - flanked stop sequence (neomycin resistance gene and a trimer of the SV40 polyadenylation sequence).

First observed in B - cell lymphoma, recurrent mutations of epigenetic modifier genes have recently been identified in PTCL - NOS. 9 In the present study, we performed targeted sequencing of the main epigenetic modifier genes in a large cohort of Chinese PTCL - NOS patients.