Summary
summary of the available genetic techniques - human genetics and genomics
- Course
- Institution
Summary of genetic techniques discussed in the course. Explanation of the techniques are provided
[Show more]
Seller
Follow
lmedema
Content preview
Human genetics and genomic Year3-2a – Genetic techniques.Chromosomal abnormalities can be detected with karyotyping, FISH, array CGH, SNP arrays
Classical cytogenetics: karyotyping: find numerical or structural variants. For chromosomal
aberrations. Ranking of cut out chromosomes photographed during cell division (mitosis) on
the basis of: Length, Location of the centromere and Banding pattern
FISH: bit higher resolution than karyotyping. For chromosomal aberrations. Detection
presence or absence of a certain genomic region with fluorescently labeled DNA (probe).
Probe binds to specific position on the chromosome
array-CGH = unbalanced aberrations visible
SNP array: can do multiple DNA fragments at a time. Looks for SNPs. Includes fragment just
up to SNP = probe. DNA attaches – elongate with color. Get dots over chromosome: decrease
in intensity and loss of heterozygosity is probably a deletion. Increase in intensity and
increase of heterozygosity is probably duplication.
Not as specifically mentioned in lecture 1 but are ways to look at chromosomes (mentioned later)
Bionano Irys = Way to digitalize karyotyping. Have very long read – label specific sequences
across entire genome. Can use NGS for this. Structural variations visible what NGS cannot.
https://bionanogenomics.com/research/genetic-diseases/
QF-PCR = amplification, detection and analysis of chromosome-specific DNA sequences
known as genetic markers or small tandem repeats (STRs). Too look into zygosity and
trisomy.
CNV with paired end sequencing (= use NGS, usually then use long reads)
o Read-pair
CoNVaDING: gets rid of background noise. CNV prediction is based on a
combination of ratio scores and Z-scores of the sample of interest compared
to the selected control samples.
o Split-read
o Read-depth
o Assembly
Bionano genome mapping technique = high resolution karyotype
Monogenic disease single nucleotide variants can be detected with sequencing
Amplification per fragment (exon) using PCR
DNA sequencing:
o sanger sequencing: Determine order of every NTs. Only one particular fragment at a
time, gene for disease is known one mutation at a time. Order fragments on size
after inclusion of ddnts. Not random, find known mutation! Get peak pattern. Double
peak means variation. https://www.youtube.com/watch?v=FvHRio1yyhQ
o Next generation sequencing (sometimes also called genome wide sequencing I
believe): no preselection! Sequence whole genome and map to reference.
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller lmedema. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $5.57. You're not tied to anything after your purchase.
Can Stuvia be trusted?
4.6 stars on Google & Trustpilot (+1000 reviews)
64419 documents were sold in the last 30 days
Founded in 2010, the go-to place to buy study notes for 15 years now