Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression

Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression

There are two combinations of heterozygous mutation, i.e., <i>in trans,</i> which carries mutations on different alleles, and <i>in cis,</i> which carries mutations on the same allele. Because only <i>in trans</i> compound heterozygous mutations have been implicat...

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Bibliographic Details
Main Authors: Hiroki Ura, Sumihito Togi, Yo Niida
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Biology
Subjects:
phase analysis
compound heterozygous mutation
next-generation sequencing
targeted double-stranded cDNA sequencing
allelic expression
Online Access:https://www.mdpi.com/2079-7737/10/4/256

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https://www.mdpi.com/2079-7737/10/4/256

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