Work

P635: Long read sequencing for the analysis of repeat expansion disorders

Year: 2024

Type: article

Abstract: Short tandem repeating sequences are found throughout the human genome. In many circumstances, these repeats are well tolerated and do not impact downstream protein synthesis or cellular function. However, there are over 50 identified diseases and disorders that are a result of repeat expansions. The number of repeats required to produce symptoms is dependent on the disease. Tandem repeat regions can be difficult for short read sequencing to analyze and provide a definitive number of expansions.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101541

Authors: April Berlyoung, Jessica Noya, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Jason Chin, Gustavo Stolovitzky, Scott Newman, Joseph Devaney

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W4392589494

FWCI:

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Related to: 10