Lecture on Sequencing Methods and Genetic Analysis

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These flashcards cover key vocabulary and concepts from the lecture on sequencing methods, genetic analysis, and point mutations.

Last updated 12:38 AM on 4/9/26
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16 Terms

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Sanger Sequencing

A chain termination method of DNA sequencing that utilizes dideoxynucleotides (ddNTPs) to stop DNA synthesis.

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Next Generation Sequencing (NGS)

A sequencing technology that allows for the simultaneous sequencing of millions of DNA fragments.

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Chain Termination

The process by which DNA synthesis is terminated through the incorporation of ddNTPs that lack a 3'-OH group.

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Electrophoresis

A technique used to separate DNA fragments based on size using an electric field.

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Automated Dye Terminator Sequencing

An automated method that uses fluorescent dyes to mark nucleotides for sequencing during electrophoresis.

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Bisulfite Sequencing

A sequencing method used to detect DNA methylation by converting cytosine to uracil.

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Pyrosequencing

A sequencing method that generates light when a correct nucleotide is added to a growing DNA strand.

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Ion Conductance Sequencing

A sequencing technique that detects changes in pH as nucleotides are added to a DNA strand.

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Bridge Amplification

A method used in Illumina sequencing that generates clusters of identical DNA fragments on a glass flow cell.

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SNP (Single Nucleotide Polymorphism)

A variation at a single nucleotide position in the DNA sequence among individuals.

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Point Mutation

A change in a single nucleotide in the DNA sequence, which can have phenotypic effects.

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RNA Sequencing (RNA-Seq)

A method used to analyze the transcriptome by converting RNA into cDNA and sequencing it.

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Chimerism Testing

The analysis of donor and recipient DNA after allogeneic bone marrow transplants to monitor engraftment.

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Restriction Fragment Length Polymorphism (RFLP)

A technique that involves cutting DNA with restriction enzymes to analyze genetic variation.

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Transposable Elements

Segments of DNA that can move within the genome, including LINES and SINES.

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PCR (Polymerase Chain Reaction)

A molecular technique used to amplify specific DNA sequences rapidly.