Introduction to genomics Flashcards
What is Genomics?
Genomics is the branch of molecular biology focused on the structure, function, evolution, and mapping of genomes. It encompasses the study of all genetic material in an organism, including both coding and non-coding regions of DNA.
What is a Genome?
A genome refers to all the genetic information of an organism, including its DNA sequences. It consists of all genes and non-coding sequences within the chromosomes of a living cell, providing the complete set of instructions necessary for growth and development.
Characteristics of the Genome
The genome contains genes that code for proteins, which are essential for various cellular functions and traits.
What is Gene Expression and Its Regulation?
Gene expression is controlled by regulatory elements such as promoters, enhancers, and silencers, which influence when and how genes are turned on or off.
Organization and Regulation of a Typical Eukaryotic Gene
Eukaryotic genes often contain regulatory regions such as GC box (involved in transcription factor binding), CAAT box (important for gene expression regulation), and TATA box (a core promoter element that helps initiate transcription).
What is Loss and Gain of Function?
Investigating gene function can involve techniques like mutagenesis (knocking down or out genes to study their effects), deletion, disruption, phenotypic screening, RNA interference (RNAi), and CRISPR-Cas9 gene editing.
What is NGS Technology?
Next Generation Sequencing (NGS) technologies allow for high-throughput sequencing of DNA and RNA. Notable platforms include Illumina, Biosystems SOLiD, Helicos, and Pacific Biosciences (SMRT).
What is the General Workflow of NGS (Illumina)?
The typical workflow includes sample preparation (extracting DNA/RNA), library preparation (fragmenting DNA/RNA and adding adapters), amplification (using PCR to increase DNA amount), sequencing (running on an Illumina sequencer), and data analysis (processing raw data to align sequences and call variants).
What are Gene Sequencing Applications?
Applications include genome sequencing and resequencing, mutation screening to identify genetic variations, studying gene regulation through protein-DNA interactions, transcriptome sequencing, DNA methylation sequencing, and noninvasive cancer detection via copy number aberrations.
What are Techniques for Studying Genomes?
Various techniques include whole genome sequencing (WGS), RNA sequencing (RNA-seq), CRISPR-Cas9 gene editing, microarray analysis for gene expression profiling.
What is the Basic Structure of a Gene?
A gene is a segment of DNA that contains the necessary information to produce a functional product, typically a protein. It includes coding sequences (exons), regulatory elements (promoters, enhancers), introns, and untranslated regions (5’ UTR and 3’ UTR).
Main components of genomics
The three main components of genomics are:
1. Molecular Biotechnology Techniques
2. Sequencing Technology
3. Bioinformatics Analysis
CRISPR-Cas9
CRISPR-Cas9 is a revolutionary gene-editing technology that allows for precise modifications to DNA in living organisms. It enables targeted
