Genomics and Medical Informatics Lecture Notes

Flashcard #1

What are genomics and medical informatics?

Genomics and medical informatics focus on big data analysis in research and medicine. They are part of the Bachelor of Medical Sciences Program.

Flashcard #2

Define genomics and transcriptomics.

Genomics is the study of the genome and its functions. Transcriptomics is the study of the transcriptome and its various functions.

Flashcard #3

Describe the Central Dogma of Molecular Biology.

DNA is the blueprint of life, replicated and passed on. RNA is transcribed from DNA and has various functions. Proteins carry out biological processes. This model explains how genes and genetic materials function and are passed on.

Flashcard #4

What is a genome?

The complete set of DNA that we possess.

Flashcard #5

What is a transcriptome?

The complete set of RNA that is made from the genome.

Flashcard #6

How much of the human genome is made into RNA and proteins?

80% of the genome DNA gets made into RNA, and only 2% of the human genome gets made into proteins.

Flashcard #7

Why are genomics and transcriptomics studied?

To understand the cause and treatment of complex human diseases and to develop novel diagnostic tools and novel treatments.

Flashcard #8

How does genome size relate to the number of genes?

As genome size increases, the number of genes also increases.

Flashcard #9

What differentiates humans from other organisms in terms of genes?

Non-protein-coding genes differentiate humans from other organisms.

Flashcard #10

What was the goal of the Human Genome Project?

To map all three billion DNA sequences in the human genome. It was launched in 1990 and completed in 2003.

Flashcard #11

What did the Human Genome Project reveal about human genomes?

Humans share 99.9% of their genome. Differences between individuals are based on how DNA is regulated.

Flashcard #12

What is epigenetics?

How our environment can shape our genetic code.

Flashcard #13

How can changes in the genome be used diagnostically?

Changes in the genome, such as mutations and variants, can lead to diseases like cancer and can be used for genetic testing.

Flashcard #14

What is the role of non-coding RNAs?

Non-coding RNAs have a critical role in regulating transcription and translation and are equally important in protein production.

Flashcard #15

Why is medical informatics important?

Medical informatics studies how to use and apply big data (like genomics and transcriptome data) in healthcare. It requires the ability to acquire, manage, and interpret data.

Flashcard #16

What is the goal of genome sequencing?

Knowing the sequence of the billions of letters that make up your own personal genome.

Flashcard #17

How do scientists sequence a genome?

Scientists break the long string of DNA down into smaller pieces, separate these pieces, and sequence them individually. They then use enzymes to make thousands of copies of each genome piece. A batch of special colored letters is added to the genome, and seeing the order of the colors allows us to read the sequence. The sequences are stitched together using computer programs.

Flashcard #18

What is DNA binding?

DNA binds to other DNA if the sequences are the exact opposite of each other, A's bind to T's and G's bind to C's. If the A T G C sequence of two pieces of DNA are exact opposites, they stick together.

Flashcard #19

What are the applications of genomics, transcriptomics, and medical informatics?

Diagnosis, prognosis, prediction, and discovery, particularly in cancer research.

Flashcard #20

Define diagnosis in the context of genomics.

Identifying or confirming a disease using transcription profiles.

Flashcard #21

What is the Cancer Type ID test?

A test used in the clinic that looks at the expression of 92 different genes to differentiate between 50 tumor types or cancer types based on genetic data, with up to
87
87.It is essential for effective treatment and personalized treatment plans.

Flashcard #22

Define prognosis in the context of transcriptomics.

Estimating how severe the disease is using transcriptome data.

Flashcard #23

What is the MammoPrint Test?

A breast cancer risk test that looks at the expression of 70 genes to predict whether the patient will have a high or low chance of recurrence.

Flashcard #24

Define prediction in the context of genomics.

Forecasting whether a certain treatment is effective or not using genomic data in genome-wide association studies (GWAS).

Flashcard #25

What are Single Nucleotide Polymorphisms (SNPs)?

Genetic variations in DNA that are analyzed to see whether they are associated with the disease. They are used to link to an increased risk of developing the disease.

Flashcard #26

Define treatment prediction in the context of transcriptomics.

Using transcriptome data to predict how well a cancer patient will respond to treatment.

Flashcard #27

How is treatment success monitored in chronic myeloid leukemia (CML)?

The blood of patients is monitored for the presence or expression of the BCR-ABL gene fusion. A decrease in the levels of this mutant gene expression indicates successful inhibition and a decrease in the cancer itself.

Flashcard #28

How has the study of genomics and transcripts transformed our understanding of cancer?

By comparing the genetic profile of normal versus tumor samples, and B-RAF normal versus B-RAF mutant samples to identify mutations and pathways.

Flashcard #29

Example of Cancer Transformation

50% of melanomas show a mutation in the B-RAF protein, the effects of this mutation are studied by comparing the genetic profile of normal versus tumor samples and B-RAF normal versus B-RAF mutant samples. The use of inhibitors target this mutation

Flashcard #30

How is patient response monitored and determined for treatment strategies

Patient response can be monitored by looking at the transcription signature, and using this signature, the best treatment strategies for these patients can be determ