Targeted Locus Amplification and Haplotyping.
Cystic fibrosis
Genetic variation
Haplotyping
Next generation sequencing
Organoids
Phasing
Proximity ligation
Targeted Locus Amplification (TLA)
Journal
Methods in molecular biology (Clifton, N.J.)
ISSN: 1940-6029
Titre abrégé: Methods Mol Biol
Pays: United States
ID NLM: 9214969
Informations de publication
Date de publication:
2023
2023
Historique:
entrez:
6
11
2022
pubmed:
7
11
2022
medline:
9
11
2022
Statut:
ppublish
Résumé
Targeted 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.
Identifiants
pubmed: 36335490
doi: 10.1007/978-1-0716-2819-5_2
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
31-48Informations de copyright
© 2023. The Author(s).
Références
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