Lecture Notes on Sequencing Technologies and Genetic Variation

These flashcards cover essential vocabulary related to sequencing technologies, mutation types, and genome assembly concepts discussed in the lecture.

Sequencing

The process of fragmenting DNA, generating reads, and assembling them into genomes.

Homozygous alleles

Alleles that show identical reads at a site.

Heterozygous alleles

Alleles that display differences at a site, such as G vs. A.

Germline mutations

Inherited mutations that can be passed from parents to offspring.

Somatic mutations

Acquired mutations that occur in non-germline tissues.

Driver mutations

Early mutations that contribute to cancer development.

Passenger mutations

Mutations that do not contribute to cancer but occur alongside driver mutations.

Paired-end reads

Read strategy that sequences both ends of a DNA fragment, providing proximity information.

Contigs

Overlapping sequences assembled from reads to create longer stretches of DNA.

Coverage

The number of reads that cover a particular site in the genome.

Exome sequencing

A sequencing method that focuses on the coding regions of the genome.

RNA sequencing (RNA-seq)

A technique to capture and sequence expressed transcripts.

ChIP-seq

A method to examine chromatin modifications and protein-DNA interactions.

Methylation sequencing

Sequencing that assesses DNA methylation patterns influencing gene expression.