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Personal genomics as a major focus of CSAIL research
Personal genomics as a major focus of CSAIL research

... - challenge of complex multi-genic traits: height, diabetes, Alzheimer's  1000s of genes ...
Genotyping BayGenomics Mice 1. Introduction The gene
Genotyping BayGenomics Mice 1. Introduction The gene

... the vector inserted before or after the restriction site for SpeI. In this case, the appropriate probe will detect the wild-type allele and a longer mutant allele. These strategies will prove difficult to use if: —the complete sequence of the trapped intron is not available in the current databases ...
ZytoLight ® CLL I Probe SPEC TP53/ATM Dual Color Probe
ZytoLight ® CLL I Probe SPEC TP53/ATM Dual Color Probe

... LAMP1 (lysosome-associated membrane protein 1) gene region in 13q34. Due to cross-hybridizations of chromosome 13 alpha satellites to other centromeric regions, probes specific for 13q34 are frequently used for chromosome 13 copy number detection. ...
Microarrays
Microarrays

... all the genes that could possibly be expressed in those cells. If hybridization occurs to a certain feature, it means the gene is expressed. Signal intensity at that feature/spot indicates how strongly the gene is expressed (as it is a sign of how much mRNA was present in the original sample). One c ...
Analyzing Copy Number Variation in the Human Genome
Analyzing Copy Number Variation in the Human Genome

... 2) Rare CNVs causing disease in a small proportion of affected individuals in a Mendelian fashion 3) Common CNVs that are responsible for a proportion of complex genetic risk in many individuals CNV ...
Supplementary Data 1 (doc 909K)
Supplementary Data 1 (doc 909K)

... 5’GGGACACGTGTAACAAAATCAG. The control region was selected by examining the SNP array data for a copy number call of 2 across all samples. All reactions were conducted on an iCycler iQ system (BioRad), measuring Syber Green DNA binding. Melting curve analyses were performed ensure single PCR products ...
Grimmer presentation
Grimmer presentation

... • 3-D Imagery using the 3dMD® Face System ...
Recitation 10 Solutions
Recitation 10 Solutions

... d) Would you be able to tell the sequence of the molecule if you had loaded into a single lane a reaction in which all four ddNTPs had been added from a lane? Yes, but only if each ddNTP was labeled with a fluorophore of different color. ...
Document
Document

... Question 6 pertains to the following. This region of the genome is known to contain a particular gene, which encodes a very large protein of 1600 amino acids. A cDNA library primed with oligo dT was made and a clone derived from that library hybridized to the 5 kb and 3.1 kb restriction fragments o ...
DNA Probes
DNA Probes

...  RNA/RNA (not useful here since clones are DNA). ...
Clike here - University of Evansville Faculty Web sites
Clike here - University of Evansville Faculty Web sites

... The restriction-fragment length experiment we looked at before could use PCR instead of a radioactive probe. If we amplify large quantities of the region of interest from a small amount of genomic DNA, and then do the restriction digest, the fragments we are interested in will be the only ones on t ...
PowerPoint Presentation - No Slide Title
PowerPoint Presentation - No Slide Title

... The restriction-fragment length experiment we looked at before could use PCR instead of a radioactive probe. If we amplify large quantities of the region of interest from a small amount of genomic DNA, and then do the restriction digest, the fragments we are interested in will be the only ones on t ...
Making probes/primers
Making probes/primers

... DNA synthesis using the Phosphoramidite method. •Before the start of synthesis amino groups of adenine, guanine and cytosine are derivatised by addition of benzoyl, isobutyryl and benzoyl groups respectively to prevent undesirable side reactions during chain growth. •Thymine is not treated as it ha ...
投影片 1
投影片 1

... cDNA(Complete Oligonucleotides sequences) ...
What are 3 major limitations of using the chimpanzee genome for
What are 3 major limitations of using the chimpanzee genome for

... “Finally, the genomic rearrangements, duplications, gene-specific expansions, and measurements of the impact of natural selection presented here have revealed the rich and heterogeneous genomic changes that have occurred during the evolution of the human, chimpanzee, and macaque. The marked diversit ...
Whole genome shotgun sequencing
Whole genome shotgun sequencing

... Screen DNA by PCR: Similar to ASOs, in combination with a 2nd primer, use: (a) PCR primer with normal sequence (b) PCR primer with mutant sequence Will only get PCR product if the primer perfectly matches the genomic DNA. ...
Zoo/Bot 3333
Zoo/Bot 3333

... the open slots representing the origin. 3. Which of the above lanes (left to right) on the electrophoresis gel represents a sequencing reaction containing deoxyadenosine triphosphate? a) the “G” lane; b) the “A” lane; c) the “T” lane; d) the “C” lane, e) all of the above. 4. The DNA sequence of the ...
Glossary AV 121017
Glossary AV 121017

... cell two alleles are present, one inherited from the mother, the other from the father DeoxyriboNucleic Acid - doublestrand A polymorphic DNA segment at a known chromosomal location. All exons from a genome together The most likely order of DNA segments on the chromosome based on analysis of co-segr ...
Document
Document

... Genomics: The study of organism's genome concerns with the number, location, overall size and organization of all the genes needed to make up an organism. The position of pseudo-genes will aid our understanding of genome evolution. The immediate challenge is to try to discover the function of the hu ...
Jan 19
Jan 19

... Sanger (di-deoxy chain termination) 1) anneal primer to template 2) elongate with DNA polymerase 3) cause chain termination with di-deoxy nucleotides will be incorporated but cannot be elongated 4 separate reactions: A, C, G, T ...
Protein-blot analysis of receptor-ligand interactions
Protein-blot analysis of receptor-ligand interactions

A genome-wide association study of chronic otitis media with
A genome-wide association study of chronic otitis media with

Study of the single nucleotide polymorphism (SNP) at the
Study of the single nucleotide polymorphism (SNP) at the

... 16 showed no mutation. Analysis of the core fragment of LCR HS2, 3, and 4 was carried out in these 16 samples in search of novel mutations associated with the disease phenotype. DNA sequencing of HS2, 3, and 4 core sequences showed only one polymorphism, an A-G, in the palindromic sequence, TGGGGACC ...
Standard Operating Procedure for the Determination of Tissue
Standard Operating Procedure for the Determination of Tissue

Chromosome Microarray
Chromosome Microarray

... developmental delay, growth retardation, and dysmorphic features. Standard cytogenetic analysis can identify visible chromosomal alterations, such as an extra chromosome band, but small deletions or duplications in the genome cannot be reliably detected. Submicroscopic unbalanced rearrangements have ...
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Molecular Inversion Probe



Molecular Inversion Probe (MIP) belongs to the class of Capture by Circularization molecular techniques for performing genomic partitioning, a process through which one captures and enriches specific regions of the genome. Probes used in this technique are single stranded DNA molecules and, similar to other genomic partitioning techniques, contain sequences that are complementary to the target in the genome; these probes hybridize to and capture the genomic target. MIP stands unique from other genomic partitioning strategies in that MIP probes share the common design of two genomic target complementary segments separated by a linker region. With this design, when the probe hybridizes to the target, it undergoes an inversion in configuration (as suggested by the name of the technique) and circularizes. Specifically, the two target complementary regions at the 5’ and 3’ ends of the probe become adjacent to one another while the internal linker region forms a free hanging loop. The technology has been used extensively in the HapMap project for large-scale SNP genotyping as well as for studying gene copy alterationsand characteristics of specific genomic loci to identify biomarkers for different diseases such as cancer. Key strengths of the MIP technology include its high specificity to the target and its scalability for high-throughput, multiplexed analyses where tens of thousands of genomic loci are assayed simultaneously.
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