
SNPs - PBGworks
... The two strands of DNA are antiparallel; they run in opposite directions. The carbon atoms of the deoxyribose sugars are numbered for orientation. http://en.wikipedia.org/wiki/Image:DNA_chemical_structure.png ...
... The two strands of DNA are antiparallel; they run in opposite directions. The carbon atoms of the deoxyribose sugars are numbered for orientation. http://en.wikipedia.org/wiki/Image:DNA_chemical_structure.png ...
PowerPoint-Präsentation
... geographic adaptability, barley is particularly noted for its tolerance to cold, drought, alkali, and salinity. The barley genome - with 5.3 billion letters of genetic code - is one of the largest in cereal crops measuring about twice the size of the human genome. Barley is a true diploid, thus, it ...
... geographic adaptability, barley is particularly noted for its tolerance to cold, drought, alkali, and salinity. The barley genome - with 5.3 billion letters of genetic code - is one of the largest in cereal crops measuring about twice the size of the human genome. Barley is a true diploid, thus, it ...
XomeDx - GeneDx
... any area of the exome that was tested. This does not necessarily mean that the cause of the affected individual’s disease is not due to an underlying genetic condition. It is still possible that there is a mutation in a region of the exome that is not covered by this test, or a type of mutation that ...
... any area of the exome that was tested. This does not necessarily mean that the cause of the affected individual’s disease is not due to an underlying genetic condition. It is still possible that there is a mutation in a region of the exome that is not covered by this test, or a type of mutation that ...
2008 BSHG newesletter 01
... each sample only a very small section of the total DNA is analysed. The simplest way to achieve targeting with massively parallel sequencing is to analyse PCR products rather than whole DNA. This is not straightforward for a number of reasons. Firstly there is the sheer number of PCR products that m ...
... each sample only a very small section of the total DNA is analysed. The simplest way to achieve targeting with massively parallel sequencing is to analyse PCR products rather than whole DNA. This is not straightforward for a number of reasons. Firstly there is the sheer number of PCR products that m ...
Genome Wide Sequencing
... Do I need to run my DNA out on a gel or use the Bioanalyzer before submission to the Core? Yes, the core will need to see the size distribution prior to starting the library synthesis. This is because our library input size needs to be 300-400bp AFTER a fragmentation step. The fragmentation can only ...
... Do I need to run my DNA out on a gel or use the Bioanalyzer before submission to the Core? Yes, the core will need to see the size distribution prior to starting the library synthesis. This is because our library input size needs to be 300-400bp AFTER a fragmentation step. The fragmentation can only ...
Whole Exome Sequencing
... will be available to your insurance company and may affect coverage and/or premiums (cost). Information about a person’s family history is used to interpret test results for genetic testing, including WES. If the family history is wrong or not accurate, it can cause problems interpreting the test re ...
... will be available to your insurance company and may affect coverage and/or premiums (cost). Information about a person’s family history is used to interpret test results for genetic testing, including WES. If the family history is wrong or not accurate, it can cause problems interpreting the test re ...
Next Generation Sequencing - Erasmus Observatory on Health Law
... Problems: contamination modern humans and coisolation bacterial DNA ...
... Problems: contamination modern humans and coisolation bacterial DNA ...
Oxford Nanopore Technologies
... • Run until... sufficient data – The GridION system enables users to run an experiment until sufficient data has been collected to reach a predetermined experimental endpoint. ...
... • Run until... sufficient data – The GridION system enables users to run an experiment until sufficient data has been collected to reach a predetermined experimental endpoint. ...
Next Generation Sequencing
... Next Generation Sequencing • Often referred to as massively parallel sequencing ...
... Next Generation Sequencing • Often referred to as massively parallel sequencing ...
NGS: Coming to a lab near you!
... A change that has been previously defined and is known to result in a given disorder, disease or phenotype. ...
... A change that has been previously defined and is known to result in a given disorder, disease or phenotype. ...
PowerPoint **
... >ABI 3730xl: 1 hr / run, output 90,000 bp >Human = 3,000,000,000 bp / 90,000 bp*1hr =333333.33 hr = 1389 days = 3.8 years ...
... >ABI 3730xl: 1 hr / run, output 90,000 bp >Human = 3,000,000,000 bp / 90,000 bp*1hr =333333.33 hr = 1389 days = 3.8 years ...
Whole genome sequencing - Center for Biological Sequence Analysis
... 2007: PhD in Immunological Bioinformatics from Center for Biological Sequence Analysis (CBS), DTU 2007-2012: Assistant professor at CBS, DTU ...
... 2007: PhD in Immunological Bioinformatics from Center for Biological Sequence Analysis (CBS), DTU 2007-2012: Assistant professor at CBS, DTU ...
Mag Bind SEQ DTR - Omega Bio-tek
... Omega Bio-tek Mag-Bind® SeqDTR is designed to effectively and reliably remove unincorporated terminators from sequencing reactions. Sequencing products are mixed with the Mag-Bind® SeqDTR magnetic particles which selectively bind DNA. Two rapid wash steps eliminate trace contaminants such as nucleot ...
... Omega Bio-tek Mag-Bind® SeqDTR is designed to effectively and reliably remove unincorporated terminators from sequencing reactions. Sequencing products are mixed with the Mag-Bind® SeqDTR magnetic particles which selectively bind DNA. Two rapid wash steps eliminate trace contaminants such as nucleot ...
Katie Snape (Genetics Update)
... • Depth of coverage = number of reads covering a particular region of the exome – The deeper the coverage, the more accurate the results – Alterations within the middle of a read are more likely real than those at the end of a read ...
... • Depth of coverage = number of reads covering a particular region of the exome – The deeper the coverage, the more accurate the results – Alterations within the middle of a read are more likely real than those at the end of a read ...
Systems Biology Workshop 2017 | Speakers
... insights into mechanisms of action of RNA Polymerase II, MSH2-MSH6 DNA repair enzyme, and molecular crowding. After this Alexander have joined the lab of Prof. Maxim Artyomov to pursue his interest in fast-growing field of next-generation sequencing (NGS). He worked on integrative analysis of geneti ...
... insights into mechanisms of action of RNA Polymerase II, MSH2-MSH6 DNA repair enzyme, and molecular crowding. After this Alexander have joined the lab of Prof. Maxim Artyomov to pursue his interest in fast-growing field of next-generation sequencing (NGS). He worked on integrative analysis of geneti ...
Services Experimental Design
... 50 gb of DNA sequence per lane with read length from 50bp to 250bp either single or paired end. ...
... 50 gb of DNA sequence per lane with read length from 50bp to 250bp either single or paired end. ...
Poste CDD en Bioanalyse /Bioinformatique
... The present position is oriented toward the quantitative and qualitative applications of Next Generation Sequencing for whole-genome sequencing, exome sequencing, RNA-seq, ChIP-seq, chromatin capture conformation…One of the major objective is to achieve a better understanding of the interactions bet ...
... The present position is oriented toward the quantitative and qualitative applications of Next Generation Sequencing for whole-genome sequencing, exome sequencing, RNA-seq, ChIP-seq, chromatin capture conformation…One of the major objective is to achieve a better understanding of the interactions bet ...
Whole Exome Sequencing
... 85% of disease-causing mutations. With the ability to sequence nearly the entire coding region of the human genome, it is possible for clinicians and clinical laboratories to use this information to identify a previously unrecognized cause of disease. ...
... 85% of disease-causing mutations. With the ability to sequence nearly the entire coding region of the human genome, it is possible for clinicians and clinical laboratories to use this information to identify a previously unrecognized cause of disease. ...
Identification of disease genes Mutational analyses Monogenic
... If only ONE large consanguineous family with high LOD score, there is a need to demonstrate that the mutation causes a loss of function (easier for non-sense, truncating (frame shift) or splice mutations; functional studies for missense mutations) ...
... If only ONE large consanguineous family with high LOD score, there is a need to demonstrate that the mutation causes a loss of function (easier for non-sense, truncating (frame shift) or splice mutations; functional studies for missense mutations) ...
Efficient mapping of genome-wide regulatory elements for biological
... We developed a high-throughput sequencing assay for rapid transcription factor binding site (TFBS) discovery, DNA affinity purification sequencing (DAP-seq), that uses in vitro prepared transcription factors (TFs) to capture native genomic DNA. We applied DAP- seq to 1,812 Arabidopsis thaliana TFs t ...
... We developed a high-throughput sequencing assay for rapid transcription factor binding site (TFBS) discovery, DNA affinity purification sequencing (DAP-seq), that uses in vitro prepared transcription factors (TFs) to capture native genomic DNA. We applied DAP- seq to 1,812 Arabidopsis thaliana TFs t ...
BI0034
... microarray data analysis1) Definition of a key gene and import / retrieval of the key gene sequence, 2) BLAST search of the key gene sequence against the local database, 3) Determination of the k neighboring genes at each side of the key gene, 4) All against all BLAST searches of the k neighboring g ...
... microarray data analysis1) Definition of a key gene and import / retrieval of the key gene sequence, 2) BLAST search of the key gene sequence against the local database, 3) Determination of the k neighboring genes at each side of the key gene, 4) All against all BLAST searches of the k neighboring g ...
Template for Exome Report Abstract. The abstract should include
... 5.1. Variations reported online All variants that fulfill one of the technical and biological criteria below must be declared in DECIPHER prior to final acceptance. The ID number of the DECIPHER data must be declared here. Declaration to other databases may be added here as well. ...
... 5.1. Variations reported online All variants that fulfill one of the technical and biological criteria below must be declared in DECIPHER prior to final acceptance. The ID number of the DECIPHER data must be declared here. Declaration to other databases may be added here as well. ...
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.