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Do curso por The University of Edinburgh

Data Science in Stratified Healthcare and Precision Medicine

23 classificações

The University of Edinburgh

Data Science in Stratified Healthcare and Precision Medicine

23 classificações

An increasing volume of data is becoming available in biomedicine and healthcare, from genomic data, to electronic patient records and data collected by wearable devices. Recent advances in data science are transforming the life sciences, leading to precision medicine and stratified healthcare. In this course, you will learn about some of the different types of data and computational methods involved in stratified healthcare and precision medicine. You will have a hands-on experience of working with such data. And you will learn from leaders in the field about successful case studies. Topics include: (i) Sequence Processing, (ii) Image Analysis, (iii) Network Modelling, (iv) Probabilistic Modelling, (v) Machine Learning, (vi) Natural Language Processing, (vii) Process Modelling and (viii) Graph Data. Watch the course promo video here: http://edin.ac/2pn350P

Na lição

WELCOME TO WEEK 2

This week you will be introduced to Sequence Processing and Medical Image Analysis. Explore the course materials to find out about recent advances in these areas and how they contribute to Precision Medicine!

Introduction1:49

DNA and Sequencing3:31

Modelling the Data3:10

Conheça os instrutores

Dr Areti Manataki
Teaching and Research Fellow
Centre for Medical Informatics
Dr Frances Wong
Data Science MOOC Project Lead
College of Science and Engineering

In bioinformatics, sequence analysis is the processing of DNA,

RNA or peptide sequences by a range of

analytical methods to understand its structure or function.

Methodologies used, include sequence assembly,

sequence alignment and searches against biological databases.

Sequence assembly means the reconstruction of

a DNA sequence by aligning and merging small DNA fragments.

These small DNA fragments are the results from sequencing machine.

Thus, the sequence assembly process involves comparing sequences,

finding overlapping fragment pairs,

merging as many fragment pairs as possible

and creating a consensus sequence from the merged fragments.

The challenges in sequence assembly programs are to allow potential sequence ambiguities,

and yet discriminate between repetitive regions,

gene family members or gene sharing the same motif.

Sequence alignment is a method of comparing

two or more sequences by looking for a series of

individual characters or character patterns found in the same order in the sequences.

There are two main types of sequence alignment,

pair-wise sequence alignment and multiple sequence alignment.

Pair-wise sequence alignment only compares two sequences at a time.

Whereas multiple sequence alignment compares many sequences.

In order to find similar regions of a sequence,

it is common to perform a search using a sequence analysis tool.

A popular and widely used tool is a program called BLAST,

Basic Local Alignment Search Tool.

BLAST is a pair-wise alignment tool and used to search for sequence similarity.

More specifically, it is an algorithm for comparing

primary biological sequence information such as the nucleotides of DNA sequences.

A BLAST search enables a researcher to compare

a query sequence with a library or database of sequences,

and identify library sequences that

resemble the query sequence above a certain threshold.

These analytical methods can aid precision medicine.

For example, by providing a better understanding of genes involved in rare diseases.

This in turn can lead to the development of targeted therapies.

To put sequence analysis in a medical context,

sequencing results from a human DNA sample can be

mapped to a widely used reference sequence.

This reference sequence is produced from the Human Genome Project.

The reference sequence shows the position of our genes, most of which are known.

Sequence analysis identifies the differences,

called variants, between your genome and the reference.

Most differences are harmless.

However, some differences could be causing a particular medical condition.

Genetic testing can be used to find changes that are associated with inherited disorders.

The results of a genetic test can confirm or rule out a suspected genetic condition,

or help determine a person's chance of developing or passing on a genetic disorder.

For example, genetic testing can be done for cystic fibrosis.

Cystic fibrosis is a genetic condition,

which usually affects people from birth and causes a range of symptoms.

The main symptoms affect the lungs and digestive system.

A genetic test for cystic fibrosis will look for

the most common changes in the cystic fibrosis gene.

If you have a family history of cystic fibrosis,

you can be tested to determine whether you are

a carrier of the defective gene that causes this condition.

Sequencing data is an important part of precision medicine,

as its analysis enables personalized treatment and prevention of disease.

Each individual will benefit from targeted therapies,

meaning that fewer people will suffer from

unnecessary side effects that may occur with ineffective therapies.

Precision medicine aims to provide

better prevention and treatment methods for each individual,

none of which would be possible without the individual's sequencing results.

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