Genetic Diversity and Human Pathology

Flashcards focusing on key concepts related to genetic diversity, human pathology, and precision medicine.

What percentage of the human reference genome do all humans share?

More than 99.5%.

What is the average frequency of single nucleotide polymorphisms (SNPs) in the human genome?

One polymorphism every 30 base pairs.

How many new mutations does each human individual have compared to their parents on average?

About 60 new mutations.

What percentage of human genetic variability is shared across continents?

99%.

What are pathogenic variants?

Variants that have a strong causal role in a specific illness.

What is the difference between pathogenic variants and pathology-associated variants?

Pathogenic variants have a strong causal role in disease, while pathology-associated variants increase the chances of developing a pathology but do not directly cause it.

How does omics contribute to precision medicine?

Omics provides comprehensive data about key cellular components to understand individual patient differences.

What is genomics?

The study of the complete sequence of our chromosomes.

What is metabolomics?

The study of the whole set of substrates or products in all metabolic reactions.

What distinguishes a biomarker from a signature in omics science?

A biomarker is a single quantifiable parameter, while a signature is a group of biomarkers that indicate a specific situation.

How do genome-wide association studies (GWAS) help in understanding diseases?

GWAS identify pathology-associated variants and candidate genes with causal effects in diseases.

What are heatmaps used for in the context of genomic data?

Heatmaps summarize genomic analyses and display mutation patterns across different tumors.

What role does mass spectrometry play in proteomics?

It identifies and quantifies peptides from complex protein mixtures.

What types of modifications can mass spectrometry detect in proteins?

Post-translational modifications such as phosphorylation, methylation, and acetylation.

What is The Cancer Genome Atlas (TCGA)?

A database that integrates omics data on human cancers, characterizing over 20,000 primary tumors.