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Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Quantification of aneuploidy in targeted sequencing data using ASCETS.

Liam F Spurr^1,2, Mehdi Touat^2,3,4, Alison M Taylor^1,2,5

¹Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.

Bioinformatics (Oxford, England)

|November 28, 2020

Summary

Researchers developed ASCETS, a new computational method for accurately quantifying copy-number variations from targeted sequencing data. This tool addresses a critical gap, enabling large-scale genomic analysis for cancer research.

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Targeted DNA Methylation Analysis by Next-generation Sequencing

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

Area of Science:

Genomics
Bioinformatics
Computational Biology

Background:

Targeted panel sequencing is expanding, enabling large-scale genomic analysis.
Existing tools lack efficient copy-number quantification for targeted sequencing data.

Purpose of the Study:

To introduce ASCETS, a novel method for copy-number quantification from targeted sequencing data.
To enable efficient analysis of arm and chromosome-level copy-number changes.

Main Methods:

ASCETS utilizes targeted sequencing data.
The method focuses on quantifying copy-number alterations.

Main Results:

ASCETS provides efficient quantitation of copy-number changes.
The tool is suitable for arm and chromosome-level analysis.

Conclusions:

ASCETS addresses the lack of tools for copy-number quantification in targeted sequencing.
This method facilitates large-scale genomic analysis using panel data.