Scalable detection of technically challenging variants through modified next‐generation sequencing

Scalable detection of technically challenging variants through modified next‐generation sequencing

Abstract Background Some clinically important genetic variants are not easily evaluated with next‐generation sequencing (NGS) methods due to technical challenges arising from high‐ similarity copies (e.g., PMS2, SMN1/SMN2, GBA1, HBA1/HBA2, CYP21A2), repetitive short sequences (e.g., ARX polyalanine...

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Bibliographic Details
Main Authors: Susan Rojahn, Tina Hambuch, Jessika Adrian, Erik Gafni, Alex Gileta, Hannah Hatchell, Britt Johnson, Ben Kallman, Kate Karfilis, Curtis Kautzer, Michael Kennemer, Lloyd Kirk, Daniel Kvitek, Jessica Lettes, Fenner Macrae, Fernando Mendez, Joshua Paul, Maurizio Pellegrino, Ronny Preciado, Jan Risinger, Matthew Schultz, Lindsay Spurka, Sajani Swamy, Rebecca Truty, Nathan Usem, Andrea Velenich, Swaroop Aradhya
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
bioinformatics
genetic testing
molecular genetics
next‐generation sequencing
Online Access:https://doi.org/10.1002/mgg3.2072

Internet

https://doi.org/10.1002/mgg3.2072

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