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Transkriptom a proteom - Univerzita Karlova v Praze
Transkriptom a proteom - Univerzita Karlova v Praze

... Immobilized phase – multiple probes with known sequences bound on certain places of the solid support Mobile phase = labeled mixture of analyzed NAs (simultaneous detection of presence and quantity of many sequences) ...
Genome_annotation
Genome_annotation

... •pilot phase focused on 30 Mb (~ 1%) of the genome •international consortium of computational and laboratory-based scientists working to develop and apply high-throughput approaches for detecting all sequence elements that confer biological function •now in its second phase, extending study to entir ...
Structure/Function studies on urokinase plasminogen activator
Structure/Function studies on urokinase plasminogen activator

... Maximum of 250 words. Please detail the training provision that will be made available to the student. The project will be mainly based in the Division of Respiratory Medicine which includes 10 senior academic staff, research fellows, research technicians, nurses and support. The Division has resear ...
Genetics and Genomics Competencies for Clinical Investigators
Genetics and Genomics Competencies for Clinical Investigators

... 3. Identify  instances  of  multifactorial  inheritance  and  determine  heritability  of   a  trait.   4. Utilize  databases  of  human  genetic  traits,  such  as  Online  Mendelian   Inheritance  in  Man   Competency  2:  Genome  Structure   ...
Deep Dive: Medical and Population Genetics
Deep Dive: Medical and Population Genetics

... has a longstanding interest and commitment to pursuing these goals, and since its founding over a decade ago, it has been an international leader in the study of human genetic variation and its application to disease. Broad scientists have pioneered the development of diverse tools and methods to en ...
Identity-by-descent filtering of exome sequence data for disease
Identity-by-descent filtering of exome sequence data for disease

... Associate Editor: Jeffrey Barrett ...
Aligning reads with Galaxy
Aligning reads with Galaxy

... – Like the index of a book. Words (sequences) can be looked up in index which then points you to the pages (genomic locations) were that word (sequence) is found. • Narrows-down the search space (searches index instead of genome) • Speeds up alignment and requires less memory when compared to older ...
Genome-Wide Association Study (GWAS) Outline
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... • 1. single‐locus analysis • When a well‐defined phenotype has been selected for  a study population and genotypes are collected using  sound techniques, the statistical analysis can begin • Quantitative traits‐‐‐‐ANOVA (analysis of variance)‐‐‐ null hypothesis is that there is no difference between ...
Lay summary of the final report Dec 1997
Lay summary of the final report Dec 1997

... is responsible for Rb and it must be directly analysed for changes (mutations) that cause Rb. RB1 is coded by a large region of DNA so that sequencing each patient's entire gene would be extremely time consuming and expensive. In order to make the search for mutations more efficient, the Retinoblast ...
Current Second Tier and Future Applications of Gene Sequencing in
Current Second Tier and Future Applications of Gene Sequencing in

... http://www.labrecyclers.com/product.html?InventoryID=2301 Longer reads Human Genome Project ...
rodrigo_brindeirox
rodrigo_brindeirox

... • DRM Genotyping: not clonal, synergy between mutations not evaluated: – Syntheny between mutations  multi-resistant virus or – Mutations in different subpopulations  mixture of resistant and wild type viruses. ...
Researchers Scrutinize Brown Tide Genes (pdf)
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... needed to grow without B12. It also is likely a B12 scavenger, meaning it can salvage degraded vitamin B12 molecules to reconstruct the molecule. Dr. Adam Kustka of Rutgers University focused on iron use and transport in Aureococcus, identifying three genes responsible for iron transport. By contras ...
The sugarcane chloroplast genome: a next generation sequencing
The sugarcane chloroplast genome: a next generation sequencing

... rrn23 rrn23 rrn23 rrn23 ...
ppt - Castle High School
ppt - Castle High School

... individual genome include next-generation sequencing methods and DNA microarrays. A DNA microarray detects DNA or RNA sequences that are complementary to and hybridize with an oligonucleotide probe. The aim is to find out which SNPs are associated with specific diseases and identify alleles that con ...
Chapter 12 from book
Chapter 12 from book

... individual genome include next-generation sequencing methods and DNA microarrays. A DNA microarray detects DNA or RNA sequences that are complementary to and hybridize with an oligonucleotide probe. The aim is to find out which SNPs are associated with specific diseases and identify alleles that con ...
Chap 4 Chemical Synhesis Sequencing and Amplification of DNA
Chap 4 Chemical Synhesis Sequencing and Amplification of DNA

... Pair-end sequencing: sequencing in both end  after read 1 (P5 linearized) finished, another round of bridge amplification has been performed and P7 site has been cut this time, and read 2 (opposite read 1) has been sequenced by SBS.  more accurate alignment, especially across difficult-to-sequence ...
DNA SEQUENCING DNA sequencing
DNA SEQUENCING DNA sequencing

... requires less starting material (<1 μg). More importantly, these methods do not require PCR, which creates mutations in clonally amplified templates that masquerade as sequence variants. AT-rich and GC-rich target sequences may also show amplification bias in product yield, which results in their un ...
GenomeLab™ GeXP Genetic Analysis System
GenomeLab™ GeXP Genetic Analysis System

... Multiplexed genetic analysis The GenomeLab GeXP Genetic Analysis System is a versatile platform. As a quantitative, high-throughput, multiplexed gene expression profiling solution, it can analyze up to 30 genes per reaction per well with unrivaled sensitivity. This system is also a fully automated, ...
IRRN 1998 23 (2) 22-24
IRRN 1998 23 (2) 22-24

... (Fig. 3). For RTSV-A,restriction digestion with HindIII produced two fragments of about 600 bp each and with BstYI two fragments of about 800 bp and 300 bp. These patterns were identical to those expected from the published sequence of the RTSV CP1-2 region: two fragments of 579 bp for HindIII diges ...
DNA Extraction, PCR Amplification and Sequencing: the IGS
DNA Extraction, PCR Amplification and Sequencing: the IGS

... stock of TRIS-HCL pH 8.0, 28 ml of a 5 M stock of NaCl, 4 ml of a 0.5 M stock of EDTA, 2 g of CTAB and 54 ml of dH2O). Genomic DNA was extracted using a Qiagen DNeasy Tissue kit (Qiagen Inc.,Germantown, MD), according to manufacturer’s specifications with the following modifications: incubation time ...
From RNA to protein
From RNA to protein

... sequencer model and desired application. ...
Genome-wide genetic screening with chemically
Genome-wide genetic screening with chemically

... in all cases (Fig. 2a). Furthermore, these Hprt mutations affected different residues ...
View/print full test page
View/print full test page

... genes in the panel plus ten bases into the introns and untranslated regions (5' and 3'). Sanger sequencing is performed to confirm variants suspected or confirmed to be pathogenic. o Deletion/duplication analysis is performed using a high resolution, custom microarray platform designed to target the ...
poster - GeoGenetics
poster - GeoGenetics

... Ancient DNA has been shown to survive in fossil material however, post-mortem DNA damage reactions, which fragment the DNA backbone into short pieces and generate hydrolytic and oxidative base derivatives, often limit the amount of DNA templates preserved. Since extraction methods are destructive an ...
The Human Genome Project
The Human Genome Project

... Analysis of RFLP variation in genomes was a vital tool in genome mapping and genetic disease analysis. If researchers were trying to initially determine the chromosomal location of a particular disease gene, they would analyze the DNA of members of a family afflicted by the disease, and look for RFL ...
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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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