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Diapositive 1 - Swisstransfusion
Diapositive 1 - Swisstransfusion

... equipment. Fast. ...
Experiment Methods
Experiment Methods

... powder in liquid nitrogen. A large-‐‐scale urea buffer method was used for DNA extraction. To produce a SOLiD sequencing library, we sheared pooled genomic DNA using a Covaris S2 single tube sample shearing system to avoid cross contamination. Sheared DNA was purified with AmPure XP beads to furthe ...
this flyer - A
this flyer - A

... amounts of genetic information. At the same time, researchers are finding out more about how our genes can affect our health, and how we can use this information to improve healthcare through better diagnosis and treatment. But how do patients and their families feel about the introduction of genomi ...
Microbes R the Biosphere?
Microbes R the Biosphere?

... sequences from healthy people. Compare this number with the number expected based on human DNA being 99.9% identical. Which of the statements below are consistent with this information? A) Mutations in protein coding sequences are more likely to be eliminated by natural selection than mutations in t ...
Chromosome breakage disorders - Cincinnati Children`s Hospital
Chromosome breakage disorders - Cincinnati Children`s Hospital

... detect 90% of mutations in ATM, 94% of mutations in BLM and over 99% of reported mutations in NBN. Large deletions and complex rearrangements have been reported in NHEJ1 and will not be detected by this test. All mutations described in LIG4 to date should be detected by this test. Analytical Sensiti ...
Feb 1
Feb 1

... 4) Subdivide each AC into lambda contigs 5) Subdivide each lambda into plasmids 6) sequence the plasmids 7) Nowadays sometimes “shotgun sequence”: Sequence libraries directly, then assemble genome by computer ...
diagnostic yield from reanalysis of whole exome
diagnostic yield from reanalysis of whole exome

... • WES data for all sequenced family members was reanalyzed using a custom-developed, proprietary bioinformatics tool (XomeAnalyzer) for variant annotation, filtering, viewing of WES data, and variant evaluation. • Variants were filtered based on inheritance patterns, variant type, custom-developed ...
HiSeq 2500 Applications Brochure
HiSeq 2500 Applications Brochure

... Quickly and cost-effectively sequence genomes right in your lab with the HiSeq 2500. Accelerate turnaround time with rapid run mode or, stay in high output mode and sequence multiple genomes in a single run. Both modes produce the industry’s highest data quality, for the most accurate and complete w ...
Document
Document

... • The anti-thesis, happily, of NPcompleteness – Used to form exact copies of section of DNA – Doubling of template per cycle, i.e., after n cycles, 2n copies of DNA – Advantages: • Precise subsequence can be selected using appropriate primers • Can create large amounts from small sample • Sine qua n ...
Lecture 7 Oct 10th
Lecture 7 Oct 10th

... specific region of DNA, in order to produce enough DNA to be adequately tested. • In order to use PCR, one must already know the exact sequences which flank (lie on either side of) both ends of a given region of interest in DNA (may be a gene or any sequence). One need not know the DNA sequence in-b ...
Jan 19
Jan 19

... 2) label primers with fluorescent dyes Primer for each base is a different color! A CGT 3) Load reactions in one lane 4) machine detects with laser & records order of elution ...
Genomics: Global views of biology
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Global MAPS Metabolomic Assisted Pathway Screen
Global MAPS Metabolomic Assisted Pathway Screen

... Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. This genetic material is known as mitochondrial DNA or mtDNA. In humans, ...
First Presentation
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... large datasets.  The algorithm/tool is called TreQ.  TreQ will be used to re-analyze datasets keeping efficiency in mind. ...
An informatics approach to analyzing the incidentalome
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... Presented by Li Changjian ...
DNA sequencing - University of Louisville Bioinformatics
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... • Metagenomics focuses on isolating DNA directly from environmental samples and sequenced, without attempting to culture the organisms from which it comes. • Metagenomics currently be applied to study microbial populations in many environments, such as the human gut. ...
Fanconi Anemia Panel by next-generation sequencing (NGS)
Fanconi Anemia Panel by next-generation sequencing (NGS)

... Clinical Sensitivity: DNA sequencing detects 80-99% of the reported mutations in these genes, depending on genetic subtype. Large exonic deletions are common in FANCA and have been reported in most of the other genes on this panel. Deletion/duplication analysis may be indicated as a follow-up test i ...
Week 10
Week 10

... • Exome includes the protein coding region and the flanking untranslated regions (5’ UTR and 3’ UTR) • Exome studies usually include the protein coding regions covering about 30 Mbp of DNA (~1%) • Human genome has approximately 180,000 exons • An estimated 85% of the disease causing mutations exist ...
DNA sequencing - Rarechromo.org
DNA sequencing - Rarechromo.org

... as highly repetitive changes (for example those found in Huntington’s disease), are hard to detect using current genome sequencing technologies. For disorders caused by these sorts of changes, a different technique is used. ...
DNA sequencing - Rarechromo.org
DNA sequencing - Rarechromo.org

... as highly repetitive changes (for example those found in Huntington’s disease), are hard to detect using current genome sequencing technologies. For disorders caused by these sorts of changes, a different technique is used. ...
Direct DNA Sequencing in the Clinical Laboratory
Direct DNA Sequencing in the Clinical Laboratory

... The article by Berg et al. (1) in this issue touches on of issues investigators are currently dealing with in seeking robust application of direct DNA sequencing to clinical specimens. These include automation, optimal methods to obtain high-quality data, efficient multiplex amplification strategies ...
Power Point Presentation
Power Point Presentation

... After the bases are "read," computers are used to assemble the short sequences into long continuous stretches that are analyzed for errors, gene-coding regions, and other characteristics. Finished sequence is submitted to major public sequence databases, such as GenBank ...
DNA sequencing is used to read out the bases from
DNA sequencing is used to read out the bases from

... 1) DNA sequencing is used to read out the bases from DNA. Many methods have been developed but the currently most common method for sequencing is known as the dideoxynucleotide method or Sanger sequencing. Look up some information about both the classical method involving radioactively labeled nucle ...
class02Sequencing-03.. - Department of Computer Science • NJIT
class02Sequencing-03.. - Department of Computer Science • NJIT

... Predicting the 3D native structures of proteins from the known amino acid sequence, i.e., protein folding, has become pressing in structural genomics and computational biology. Though it is plausible to use molecular dynamics (MD) simulations to study the folding of proteins, the currently available ...
Complex IV (COX) Deficiency Panel
Complex IV (COX) Deficiency Panel

... 2170 - Mitochondrial Respiratory Chain Complex IV Deficiency Panel by Massively Parallel SM Sequencing (BCM-MitomeNGS ) SM 2130 - mtDNA Depletion/Integrity Panel by Massively Parallel Sequencing (BCM-MitomeNGS ) 2155 - Mitochondrial Respiratory Chain Complex I Deficiency Panel by Massively Parallel ...
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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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