Genome Analysis by Sequencing of DNA

Flashcards covering key vocabulary and concepts from the lecture notes.

DNA

The blueprint of life, contained within chromosomes.

Central Dogma

DNA >> RNA >> Protein; the process by which genetic information flows.

Sequencing

Determining the sequence of base pairs of a DNA fragment.

Sanger Method

A method for DNA sequencing using chain-terminating inhibitors (ddNTPs).

ddNTP

Dideoxy-Nucleotide-Triphosphates, terminator bases that stop strand synthesis.

Shotgun Sequencing

Fragmenting genomic DNA into pieces, cloning them into bacterial vectors, and stitching the genome together by looking at overlapping clones.

Human Genome Project

A project that sequenced the entire human genome, completed in February 2001.

Next-Gen Sequencing

Sequencing methods that allow for direct fragmentation of the genome without cloning, enabling billions of short reads in parallel.

Pyrosequencing

A next-generation sequencing method that uses millions of microscopic wells to sequence DNA fragments by detecting light emitted during nucleotide incorporation.

Illumina Platform

A widely used next-generation sequencing platform that utilizes bridge amplification and dye-terminators to sequence DNA.

Nanopore Sequencing

A sequencing method that uses electric current to read base pairs as DNA strands pass through a protein pore.

Metagenomics

Sequencing DNA from complex samples (e.g., soil, seawater) to identify microbial communities.

The Cancer Genome Atlas (TCGA)

A project that produced over 2.5 petabytes of data describing 33 different rare tumor types based on paired tumor and normal tissue sets.

UK Biobank

A large-scale biomedical database containing genetic and health information from 500,000 participants.