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1418 K - Iranian Journal of Basic Medical Sciences
1418 K - Iranian Journal of Basic Medical Sciences

... encodes an unconventional myosin (myosin XV) that is expressed in the cochlea (19). This protein has important roles in the differentiation and elongation of the inner ear hair cell stereocilia , and it is also necessary for actin organization in hair cells (28). Mutations that cause hearing loss we ...
Hy-Line - LGC Group
Hy-Line - LGC Group

... Exon 4 demonstrated two independent SNPs, and thus four haplotypes, while exon 6 also exhibited four haplotypes, one of which has five SNP variants that always present together. The combination of SNPs present in the OCX32 gene resulted in 19 different proteins possible across the eight lines. The k ...
431 THE HUMAN GENOME PROJECT, DNA SCIENCE AND THE
431 THE HUMAN GENOME PROJECT, DNA SCIENCE AND THE

... that encode—the docking protein the virus needs to get into human cells. Depending on the spelling of the gene, the docking protein can have a different shape and therefore be better at docking the virus or not as good at docking the virus. People with a particular spelling are largely immune to inf ...
DNA Sequencing (cont.) - A computational tour of the human genome
DNA Sequencing (cont.) - A computational tour of the human genome

... Unitigs: Gene Myers, 95 ...
PDF
PDF

... directs a Cas9 nuclease to a specific genomic locus. Cas9 cleaves the gene of interest and creates a double­ stranded break (DSB) in the DNA, which can be repaired by non­homologous end joining (NHEJ). As NHEJ is an error­prone DNA repair process, insertions and deletions (indels) are often introduc ...
Genome Analysis and Genome Comparison
Genome Analysis and Genome Comparison

... identify all the functional regions in the sequence. If greater sensitivity is required then the Smith-Waterman algorithm based programs are preferred with the trade-off greater analysis time. Identify functional motifs and structural domains by comparing the protein sequence against PROSITE, BLOCKS ...
LIPOchip®, a DNA-array based system
LIPOchip®, a DNA-array based system

... • 2 pairs of oligonucleotides per mutation: – Each pair consists of a WT probe and a mutant probe – Signal intensity ratios calculated for WT / (WT+Mut) ...
RNA sequencing - Bioinformatics.ca
RNA sequencing - Bioinformatics.ca

... – ‘Regulatory’ mutations that affect what mRNA isoform is expressed and how much • e.g. splice sites, promoters, exonic/intronic splicing motifs, etc. ...
Zeeberg - Gene Ontology Consortium
Zeeberg - Gene Ontology Consortium

... The World According to a Microarray: • Genes are not Genes • Genes are a Mixture of Splice Variants ...
DNA barcoding in medicinal plants: Testing the potential of a
DNA barcoding in medicinal plants: Testing the potential of a

... • The sequence lengths range from 219 to 719 bp. The shortest locus is ITS2, at 219-222 bp. The average GC content of each locus is also different, the highest one is ITS2 (reaching up to 66.2%), and the lowest is psbA-trnH (with a content of 27.0%). • The efficiencies of PCR amplification and succe ...
The Loblolly Pine Genome, v1
The Loblolly Pine Genome, v1

... 24) pose a formidable challenge to full genome sequencing and assembly. We developed a new approach to sequence the genome of loblolly pine (Pinus taeda L.). It leveraged unique aspects of pine reproductive biology and deployed recents advances in genome assembly methodology.  We used whole genome s ...
A stage-scanning laser confocal microscope and protocol for DNA
A stage-scanning laser confocal microscope and protocol for DNA

... Therefore determination of methylation status of target gene is becoming increasingly important in diagnosis and treatment. Most laboratories use high performance liquid chromatography (HPLC) for the detection of 5methylcytosine residues [7]. However, HPLC requires large amount of DNA and significan ...
Sanger Sequencing Simulation
Sanger Sequencing Simulation

... enzymes, and minor improvements were made in the polyacrylamide gel apparatus; however, the essential technique remained unchanged for about 15 years. ...
Identification of amino acid sequence by X
Identification of amino acid sequence by X

... methods, the most popular ones being Edman degradation, liquid chromatography and electrospray ionization tandem mass spectrometry (LC/MS/MS), and cDNA sequencing. Edman degradation was the first approach to be developed. In this method, the single N-terminal residue is chemically labeled, cleaved f ...
Digital PCR Multiplexing Assay for Gene Copy Number
Digital PCR Multiplexing Assay for Gene Copy Number

... variations (CNVs) include loci gains or losses, and have been associated with familial cancer2 and other complex diseases3. New whole-genome genotyping platforms provide the ability to interrogate multiple CNVs and SNPs, and have begun to yield associations between such variants and disease phenotyp ...
white - UWL faculty websites
white - UWL faculty websites

... are capable of folding and assembling into the membrane ain near wild-type conformation. Apparently, a guaninetransporter containingone or the otherof the mutantwm2and bw6encoded subunits isfunctional. Only when both subunits of the transporter are mutant isactivity severely compromised. Furthermore ...
Te gades
Te gades

... Why  Te#gades?   •  *Not  all  Te#gades  species  studied  has  this   double  lineage  of  Hodgkina   •  To  look  at  this  phenomena  phylogene0cally,   we  decided  to  sequence  the  cicadas  harboring   these  bacteria   •  Thus  we ...
Applied Biosystems: Celebrating 25 Years of Advancing Science
Applied Biosystems: Celebrating 25 Years of Advancing Science

... quantities of DNA that became known as the polymerase chain reaction (PCR). In 1987, only a few years after the discovery of the PCR technique, the first commercial PCR enzyme and thermal cycler systems became widely accessible to scientists. Use of the PCR and automation of the technique by systems ...
Nucleoside Reverse Transcriptase Inhibitors
Nucleoside Reverse Transcriptase Inhibitors

... Mitochondrial DNA (mtDNA) is being studied at the population as well as the single molecule level using Linear-After-The-Exponential (LATE)-PCR, a powerful form of asymmetric PCR that allows for the clean and efficient generation of single stranded DNA that can be easily sequenced. Thus we can deter ...
History of Genetics and Sequencing of the Human
History of Genetics and Sequencing of the Human

... 1855, Virchow24 hypothesized that new cells can be formed only by the division of existing cells. In 1859, Darwin25 published On the Origin of Species, proposing evolution by natural selection, but the principles of genetics to defend his theory were not widely known at that time. In 1865, Mendel5 p ...
Plant Physiology
Plant Physiology

... each other as symbionts (Bohlool and Schmidt, 1974). Although there is extensive evidence supporting the hypothesis, other experiments contradict it. Thus, the controversy remains unresolved. As a first step to testing the lectin recognition hypothesis in the Medicugo sutivu-Rhizobium meliloti symbi ...
(a) (b)
(a) (b)

... speed and decreases in cost of sequencing entire genomes  These sensitive techniques allow direct sequencing of fragments without a cloning step ...
We report on a system developed by Bio-Rad
We report on a system developed by Bio-Rad

... Staden, R., Automation of the Computer Handling of the Gel Reading Data Produced by the Shotgun Method of DNA Sequencing, Nucl. Acids R e s . , 10, 47314751 (1982). S t a d e n , R., A Computer Program to Enter DNA Gel Reading Data i n t o a Computer, Nucl. Acids R e s . , 12, 499-503 (1984a). S t a ...
Primer on Comparative Genomics in PLoS
Primer on Comparative Genomics in PLoS

... can be computed (Figure 2), and such scores are available genome-wide on the UCSC Genome Browser. Predicting exactly what the function is of these noncoding sequences under selection is a major challenge. One promising approach is to collect good training sets of alignments within sequences of known ...
Highlight of mutation GPS® technique
Highlight of mutation GPS® technique

... A deletion is a mutation caused by loss of a DNA sequence. An insertion is a mutations caused by adding a piece of DNA into genome, which can occur naturally, or can be artificially created for research purposes in the lab mediated by virus, plasmid or transposons. Exogenous DNA insertion mutations ...
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Exome sequencing



Exome sequencing is a technique for sequencing all the protein-coding genes in a genome (known as the exome). It consists of first selecting only the subset of DNA that encodes proteins (known as exons), and then sequencing that DNA using any high throughput DNA sequencing technology. There are 180,000 exons, which constitute about 1% of the human genome, or approximately 30 million base pairs, but mutations in these sequences are much more likely to have severe consequences than in the remaining 99%. The goal of this approach is to identify genetic variation that is responsible for both mendelian and common diseases such as Miller syndrome and Alzheimer's disease without the high costs associated with whole-genome sequencing.
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