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Gene Sequencing
Gene Sequencing

... (because DNA is negatively charged, electrical current will cause it to move towards a positive pole). • The smallest copies of the DNA strand will move more quickly through the gel than the longer copies (just like a swimmer in a small speedo can move more quickly through the water than a swimmer i ...
Supplementary Information
Supplementary Information

... 95°C for 15 min; 30 cycles of denaturation at 94°C for 40 s and elongation at 72°C for 1 min; final elongation at 72°C for 10 min) but differed in their annealing temperature (archaeal 16S: 57°C for 40 s; bacterial 16S: 60°C for 40 s). The PCR conditions to amplify the fungal ITS2 region consisted o ...
Center for Biological Sequence Analysis
Center for Biological Sequence Analysis

... 1 PhD within epitope prediction - Development of tools for epitope prediction including tools with pan-specific MHC allelic coverage, and structural B cell epitope identification. Contact: Associate professor Morten Nielsen, tel.: +45 4525 2425 ...
Online Data Supplements
Online Data Supplements

... CAC AGG TTC CT-3'. Polymerase chain reaction (PCR) was carried out using a standard Taq DNA polymerase kit (Takara Taq; Takara, Otsu, Japan). The amplification condition of 96C denaturation for 1 minute, 60C annealing for 1 minute, and 72C extension for 1 minute was used for 30 cycles in a therma ...
Integrated analysis of whole-exome sequencing and transcriptome
Integrated analysis of whole-exome sequencing and transcriptome

... basis of ASD, revealing a high degree of genetic heterogeneity. Clinical application of molecular karyotyping has shown that 5% to 10% of patients carry chromosomal rearrangements and that the burden of rare and de novo smaller copy number variants (CNVs) is higher among ASD patients than controls. ...
Vol.8. 2014
Vol.8. 2014

... DNA sequencing technology is making great impacts on our lives, including healthcare, agriculture breeding and environment protection. However, more than a decade ago, it was still controversial about how much of this technology can be applied to real life. It took scientists thirteen years, and mor ...
Bioinformatics and genomics PPT - BLI-Research-Synbio
Bioinformatics and genomics PPT - BLI-Research-Synbio

... available to researchers except for his ApoE gene because it has mutations indicating a disposition for Alzheimer’s disease. • George Church and colleagues at Harvard have started the Personal Genome Project. They have recruited volunteers to provide DNA for individual genome sequencing with the und ...
Supplementary Information (doc 408K)
Supplementary Information (doc 408K)

... The identification of compound heterozygous genotypes requires the phase of alleles to be known. The phase of alleles in the probands can be directly observed since the parental genotypes are also known. Therefore, probands were defined as having a compound heterozygous genotype in a particular gene ...
The Human Genome Project – Part 2
The Human Genome Project – Part 2

... • Based on recombination frequencies ▫ The further away two points are on a chromosome, the more recombination there is between them ...
Ion AmpliSeq™ Colon and Lung Cancer Panel
Ion AmpliSeq™ Colon and Lung Cancer Panel

... Panel content and primers designed for high utility The OncoNetwork Consortium selected the genomic content for the panel based on universal interest and clinical research relevance. The entire panel is contained in a single pool of primers and is designed to cover the regions of interest with perf ...
Advanced Organic Chemistry of Nucleic Acids
Advanced Organic Chemistry of Nucleic Acids

... professionals, rather than students, in mind. Therefore, putting doubts and wavering aside, we decided to write a textbook ourselves. In making this decision we were wholeheartedly encouraged and supported by Professor M.A. Prokofiev, founder of nucleic acid chemistry in our country, to whom this bo ...
simple discontinuous buffer system for increased solution and speed
simple discontinuous buffer system for increased solution and speed

... used the discontinuous buffer system first introduced by Allen (1): it uses Tris-sulphate/leading anion as running gel buffer and Tris-borate/trailing anion as tank buffer. We have obtained: a) increased sharpening of bands with consequent enhanced resolution b) increased resolution in the >250nt. r ...
Assay Standards Working Group Recommendations, November 2012
Assay Standards Working Group Recommendations, November 2012

... RNA-seq involves purification of RNA, followed by either selection of poly-A(+) RNA or depletion of ribosomal RNA. RNA is then converted into cDNA by one of two methods; 1) random priming, followed by cDNA fragmentation, end-repair and Illumina/SOLiD linker ligation or, 2) Enzymatic or chemical RNA ...
PowerPoint 演示文稿
PowerPoint 演示文稿

... (d) Anchorage-independent growth of NIH3T3 cells expressing KIF5BRET protein and the suppression of this growth by vandetanib. Representative pictures of colonies without vandetanib treatment (top). Scale bars, 50 μm. Bar graph showing the percentage (± s.d.) of colonies formed after treatment with ...
Human Genome Project The Human Genome Project
Human Genome Project The Human Genome Project

... genome assembly programs for reconstruction of large regions of genomes (aka 'contigs'). Three years later, in 1998, the announcement by the newly-formed Celera Genomics that it would scale up the shotgun sequencing method to the human genome was greeted with skepticism in some circles. The shotgun ...
Molecular Systematics
Molecular Systematics

... • However….. • Nature June 12, 2011 – “Variation in genome-wide mutation rates within and between human families” ...
Drosophila genome takes flight
Drosophila genome takes flight

... huge amount of time with regard to the mapping of mutations and cloning of genes. The genomic information will help to guide and speed genetic analyses. For example, the knowledge that gene X is duplicated may explain why its mutant phenotype is weaker than expected. This genomic information would t ...
Optimizing Data Acquisition for Automated de novo Sequencing
Optimizing Data Acquisition for Automated de novo Sequencing

... Objective), flow rate 300 nL/min. A gradient of 5 - 40% acetonitrile in 40 minutes was used. The tandem mass spectrometric analysis was performed on the LTQ Orbitrap (Thermo Fisher Scientific). The so called ‘Top3’ acquisition routine was used, comprising a full MS scan followed by 3 Data Dependent™ ...
To Know Ourselves
To Know Ourselves

... to develop and implement the technological know-how needed for the Human Genome Project. Biological research programs already in place at the national labs benefited from the contributions of engineers, physicists, chemists, computer scientists, and mathematicians, working together in teams. Thus, w ...
Preparation of PCR Products for DNA Sequencing
Preparation of PCR Products for DNA Sequencing

... suboptimal PCR were revealed by DNA sequencing and autoradiographic detection (n >10; data not shown). Artifacts ranged from 52–68 bp in length. A strong interfering signal was observed across all four lanes at a position corresponding to a product length of 52 nucleotide (nt) on the sequencing gels ...
SNP Set Analysis for Detecting Disease Association Using Exon
SNP Set Analysis for Detecting Disease Association Using Exon

... effective number of parameters through regularization. Our results also suggest that, a screening step is effective in decreasing the number of false positive findings which is often a big concern for association studies. ...
Phylogenetic and evolutionary analyses of St. Louis encephalitis
Phylogenetic and evolutionary analyses of St. Louis encephalitis

... sequences to conduct phylogenetic analyses, in order to investigate the forces shaping the evolution of St. Louis encephalitis virus. Contrary to previous reports, we found little evidence for recombination in these isolates. Most of the amino acid sites in the SLEV polyprotein appeared to be under ...
ECHS1 mutations in Leigh disease: a new inborn
ECHS1 mutations in Leigh disease: a new inborn

... respiratory chain complexes I, II and IV, caused by mutations in either nuclear or mitochondrial DNA encoding subunits or assembly factors for these complexes, are frequent causes of Leigh disease with complex I deficiency being the most common (Tucker et al., 2010) but many other causative genes ha ...
lecture - Haloarchaea
lecture - Haloarchaea

... lengths of 200 nt are possible. With 200,000 wells, and 200nt/well, then 40 million bases can be sequenced. www.454.com ...
Brief Introduction of Single Nucleotide Polymorphism: Basic Concept
Brief Introduction of Single Nucleotide Polymorphism: Basic Concept

... chemistries to label these probes have made it possible to use up to six spectrally distinguishable probes per reaction well. With the remarkable advances made in the characterization of human genome diversity, it has been possible to describe empirical patterns of SNPs and haplotype variation in th ...
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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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