Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Video

Updated: Jun 28, 2026

Isolation of Fidelity Variants of RNA Viruses and Characterization of Virus Mutation Frequency

Isolation of Fidelity Variants of RNA Viruses and Characterization of Virus Mutation Frequency

Published on: June 16, 2011

PolyPhred analysis software for mutation detection from fluorescence-based sequence data.

Kate T Montgomery¹, Oleg Iartchouck, Li Li

¹Harvard Medical School - Partners Healthcare Center for Genetics and Genomics, Boston, Massachusetts, USA.

Current Protocols in Human Genetics

|October 31, 2008

Summary

This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.

Blood·2016

Same author

Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·2008

Same author

Mutation detection using automated fluorescence-based sequencing.

Current protocols in human genetics·2008

Same author

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Nature genetics·2006

Same author

The finished DNA sequence of human chromosome 12.

Nature·2006

Same author

[Effects of RhG-CSF on apoptosis of HL-60 cell induced by cytarabine].

Zhongguo shi yan xue ye xue za zhi·2006

Same journal

Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger Sequencing.

Current protocols in human genetics·2020

Same journal

Informed Consent for Genetic and Genomic Research.

Current protocols in human genetics·2020

Same journal

A Guide to Using ClinTAD for Interpretation of DNA Copy Number Variants in the Context of Topologically Associated Domains.

Current protocols in human genetics·2020

Same journal

The AD Knowledge Portal: A Repository for Multi-Omic Data on Alzheimer's Disease and Aging.

Current protocols in human genetics·2020

Same journal

A Practical Guide for Structural Variation Detection in the Human Genome.

Current protocols in human genetics·2020

Same journal

Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data.

Current protocols in human genetics·2020

See all related articles

Analyzing human genome sequences for disease-related genetic variants is crucial. This study details Phred, Phrap, PolyPhred, and Consed software tools for accurate and efficient mutation analysis in large cohorts.

Area of Science:

Genomics
Bioinformatics
Human Genetics

Background:

The human genome sequence enables the identification of genetic variants linked to diseases.
Studying large cohorts with specific phenotypes and resequencing candidate genes is a key approach.
Analyzing vast amounts of sequence data accurately, rapidly, and cost-effectively presents a significant challenge.

Purpose of the Study:

To describe a suite of software tools for analyzing DNA sequence data.
To provide details on obtaining, using, and expected results from these tools.
To discuss the advantages and disadvantages of the described software for mutation analysis.

Main Methods:

Utilized the Phred, Phrap, PolyPhred, and Consed software package for sequence data analysis.

More Related Videos

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

Related Experiment Videos

Last Updated: Jun 28, 2026

Isolation of Fidelity Variants of RNA Viruses and Characterization of Virus Mutation Frequency

Isolation of Fidelity Variants of RNA Viruses and Characterization of Virus Mutation Frequency

Published on: June 16, 2011

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

Detailed the process of acquiring and implementing the software.

Presented an overview of the expected outcomes and performance characteristics of the tools.

Main Results:

The described software provides a framework for analyzing genetic variants in large datasets.
The tools facilitate the identification of mutations, though complete automation is not yet achieved.
Manual review is currently necessary for 100% variant identification.

Conclusions:

The Phred, Phrap, PolyPhred, and Consed suite offers valuable capabilities for genetic variant analysis.
Ongoing software development aims to increase automation in mutation detection.
Current limitations necessitate manual oversight for comprehensive variant discovery.