• Study Resource
  • Explore
    • Arts & Humanities
    • Business
    • Engineering & Technology
    • Foreign Language
    • History
    • Math
    • Science
    • Social Science

    Top subcategories

    • Advanced Math
    • Algebra
    • Basic Math
    • Calculus
    • Geometry
    • Linear Algebra
    • Pre-Algebra
    • Pre-Calculus
    • Statistics And Probability
    • Trigonometry
    • other →

    Top subcategories

    • Astronomy
    • Astrophysics
    • Biology
    • Chemistry
    • Earth Science
    • Environmental Science
    • Health Science
    • Physics
    • other →

    Top subcategories

    • Anthropology
    • Law
    • Political Science
    • Psychology
    • Sociology
    • other →

    Top subcategories

    • Accounting
    • Economics
    • Finance
    • Management
    • other →

    Top subcategories

    • Aerospace Engineering
    • Bioengineering
    • Chemical Engineering
    • Civil Engineering
    • Computer Science
    • Electrical Engineering
    • Industrial Engineering
    • Mechanical Engineering
    • Web Design
    • other →

    Top subcategories

    • Architecture
    • Communications
    • English
    • Gender Studies
    • Music
    • Performing Arts
    • Philosophy
    • Religious Studies
    • Writing
    • other →

    Top subcategories

    • Ancient History
    • European History
    • US History
    • World History
    • other →

    Top subcategories

    • Croatian
    • Czech
    • Finnish
    • Greek
    • Hindi
    • Japanese
    • Korean
    • Persian
    • Swedish
    • Turkish
    • other →
 
Profile Documents Logout
Upload
Methods S1.
Methods S1.

... Evaluating restriction enzymes for genotyping by sequencing in perennial ryegrass. ...
Project: Large scale identification of MHC haplotypes in diverse
Project: Large scale identification of MHC haplotypes in diverse

... responsible for initiating an immune response once an organism has been invaded by a pathogen. This is a fundamental immune recognition pathway in all vertebrates and as a consequence has been under intense diversifying selection pressure, which has at least in part been driven by rapid pathogen evo ...
Changing Genetic Technologies
Changing Genetic Technologies

...  Computer analysis compares patient’s genetic material to reference sample ...
Test Information Sheet
Test Information Sheet

... Most variants in the CYP17A1 gene are missense, nonsense, or frameshift variants, although a few splice site variants have been reported. Variants are scattered throughout the gene, although exon 8, which codes for the heme-binding region of the protein, has been suggested to be a hotspot for varian ...
Metagenomics NGS intro 2015
Metagenomics NGS intro 2015

... your target genome that is covered by some mapped sequence. Calculated as the number of reads * read length / assembly size E.g, 20x coverage means each base has been sequenced an average of 20 times ...
In search of a cancer gene
In search of a cancer gene

... Which gene is involved in the Li-Fraumeni syndrome?  The p53 gene  F.P. Li, J.F. Freemeni, Jr.: Soft-tissue sarcomas, breast cancer and other neoplasm's: A familial syndrome? Annals of Internal Medicine, Philadelphia, ...
Epilepsy Advanced Sequencing and CNV Evaluation—Syndromic
Epilepsy Advanced Sequencing and CNV Evaluation—Syndromic

... such as trauma, tumors, and infection have been ruled out in cases of sporadic epilepsy, a genetic cause or predisposition can reasonably be suspected. 2 Testing for underlying genetic aberrations is complicated by the large number of genes with putative links to epilepsy, many of which have a relat ...
siRNA expression vector pRNAT-H1
siRNA expression vector pRNAT-H1

... Description: GenScript pDream2.1/LIC vector is a protein expression vector for both efficient cloning and highlevel expression of any target genes. The gene of interest can be efficiently cloned into the vector using Ligation Independent Cloning (LIC) method, and can be expressed directly without an ...
GENOMIC DNA SEQUENCES OF HLA CLASS I ALLELES
GENOMIC DNA SEQUENCES OF HLA CLASS I ALLELES

... •  Two experiments were set up to test the multiplexing capabilities of SMRT DNA sequencing; each experiment were sequenced in a single sequencing reaction: Ø  Experiment 1: 20 DNA samples amplified for HLA-A only; Ø  Experiment 2: Eight DNA samples amplified for HLA-A, -B and -C •  DNA samples we ...
My CHXE Carrot BAC Research Poster
My CHXE Carrot BAC Research Poster

... known cDNA sequence of the gene. Gel electrophoresis was performed on the PCR products in a 0.7% agarose gel to determine whether the amplification was successful and to determine the size of the different sections of the gene. The amplified products were then cleaned using the Exo-Sap procedure to ...
House of Lords - Parliament.uk
House of Lords - Parliament.uk

... My career in Genomics began in 1996 at the Whitehead Institute Center for Genome Research. In 1997 I began managing the Technology Development Team for the Human Genome Project at the Whitehead Institute/MIT. I invented several magnetic bead based DNA purification tools which enabled the streamlined ...
Quantitative Analysis of Methylation with Single
Quantitative Analysis of Methylation with Single

... • More than 1 million PCR reactions per sample • Workflow complementary to all current and future sequencing platforms • Cost-effective sequencing and simplified data analysis compared to genome-wide approach ...
RGC Collaborator Factsheet
RGC Collaborator Factsheet

... The RGC is collaborating with Curable, a non-profit research accelerator, Mayo Clinic, and the University of Kiel to conduct the International PSC Genome Project. The RGC aims to sequence 5,000 or more primary sclerosing cholangitis (PSC) patients as part of this project; Mayo Clinic and University o ...
Chapter 1 - Test bank for TextBook
Chapter 1 - Test bank for TextBook

... evaluate crime scenes, probe sites of natural disasters, reunite adopted individuals with birth parents, test food, and study history. Health Care 1. Genetic information is being incorporated into diagnosis and treatment. 2. Many diseases are the result of complex interactions among genes and enviro ...
Overview
Overview

... based on presence of one or more gene-like features •Coordination with genetic features gives a comfort level because it is empirical •Computational methods that rely on similarity to “known” genes in databases can be perilous - a sort of regressive uncertainty The Summer Institute 2004 ...
First described by Guido Fanconi in 1927, Fanconi anaemia (FA) is
First described by Guido Fanconi in 1927, Fanconi anaemia (FA) is

... cavity and central nervous system (e.g. hydrocephalus, 8%), hypogonadism (20%) and developmental delay (16%). Progressive BMF with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40-48 years, the estimated cumulative incidence of bone ...
McVean_CGAT_Mar2013
McVean_CGAT_Mar2013

... What more could we learn about human population genetics? • There is a need for continuing the programme of developing public resources describing genetic variation across new populations, with high resolution spatial information. – This will not just shed light on population history and selection, ...
SETG: NUCLEIC ACID EXTRACTION AND SEQUENCING FOR IN
SETG: NUCLEIC ACID EXTRACTION AND SEQUENCING FOR IN

... lithological exchange experienced during the late heavy bombardment period [1]. Moreover, widespread synthesis and delivery of amino acids and nucleobases, the known building blocks of life, from the early planetary nebula [2-4] may have biased life on Mars towards a familiar medium of hereditary tr ...
Introduction to genetic variation
Introduction to genetic variation

... • LoF variants found in healthy individuals will fall into several overlapping categories – Severe recessive disease alleles in the heterozygous state – Alleles that are less deleterious but nonetheless have an impact on phenotype and disease risk – Benign LoF variation in redundant genes – Genuine ...
Liggins Institute - Analytical Capabilities - Wiki
Liggins Institute - Analytical Capabilities - Wiki

... The Liggins Institute hosts the Grafton Genomics facility. Within this facility is a Sequenom and Ion Torrent NGS sequencer for sequencing for DNA, RNA and miRNA. This equipment can do genotyping (SNP analysis), exome sequencing, transcriptome sequencing (RNA), and can also detect changes in methyl ...
PGRN-RIKEN Proposal Submission We are encouraging
PGRN-RIKEN Proposal Submission We are encouraging

... f. Specific gene information – gene name(s), length of coding region, information for pseudogene and family genes, priority of each gene (Number of genes is assumed to be less than 30. Final gene list to be sequenced is determined after the discussion with RIKEN). Investigator can also propose to se ...
A rapid method for isolating high quality plasmid
A rapid method for isolating high quality plasmid

... Recently a mini-prep method has been published requiring the use of caesium chloride and ethidium bromide which then have to be carefully removed2. Wong et al. describe Sephacryl" spin columns and state that these may need to be run more than once3. Both of these extra procedures add to the expense, ...
MS Word
MS Word

... resequencing regions of poor quality (polishing) were performed according to standard methods. Sequencing was done at least three times either on both strands or using both dye primer and terminator chemistries. The assembly of the contigs and their integrity were verified after in silico constructi ...
workshop-1
workshop-1

... Also take a statistical approach: - coding and non-coding sequence are slightly different in composition - some ‘possible’ splice sites are more likely than others scan genomic sequence … . . .CGTCGTATGGCTTCGATGTAGTACATCGGATCGGTATGGAATCATTTCAGTCGCTAGCTAGCCTAACGTATATAGCTAGGTAAGACTA. . ...
Mitochondrial Genome Sequencing of a Calcareous Sponge
Mitochondrial Genome Sequencing of a Calcareous Sponge

... However, we need to use general primers to get some sequences that we could use to design specific primers for XL-PCR since there are no sequences for the mtDNA of this species published ever. ...
< 1 ... 22 23 24 25 26 27 28 29 30 ... 39 >

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.
  • studyres.com © 2025
  • DMCA
  • Privacy
  • Terms
  • Report