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.