Targeted Locus Amplification and Haplotyping-Reference-Cited by-同舟云学术

Targeted Locus Amplification and Haplotyping

Published:2022-11-07 Issue: Volume: Page:31-48
ISSN:1064-3745
Container-title:Methods in Molecular Biology
language:
Short-container-title:

Author:

Lefferts Juliet W.,Boersma Vera,Hagemeijer Marne C.,Hajo Karima,Beekman Jeffrey M.,Splinter Erik

Abstract

AbstractTargeted locus amplification (TLA) allows for the detection of all genetic variation (including structural variation) in a genomic region of interest. As TLA is based on proximity ligation, variants can be linked to each other, thereby enabling allelic phasing and the generation of haplotypes. This allows for the study of genetic variants in an allele-specific manner. Here, we provide a step-by-step protocol for TLA sample preparation and a complete bioinformatics pipeline for the allelic phasing of TLA data. Additionally, to illustrate the protocol, we show the ability of TLA to re-sequence and haplotype the complete cystic fibrosis transmembrane (CFTR) gene (> 200 kb in size) from patient-derived intestinal organoids.

Publisher

Springer US

Link

https://link.springer.com/content/pdf/10.1007/978-1-0716-2819-5_2

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