P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants
Year: 2024
Type: article
Abstract: Thirty million individuals in the US and 300 million worldwide are affected by rare genetic disorders. At present, approximately 23% of pediatric hospitalizations in the US are the result of or exacerbated by genetic mechanisms. Many rare disease patients undergo complex diagnostic odysseys employing multiple testing methodologies often spread over many years. Thus, methods that can detect the entire spectrum of disease-causing mutations genome-wide have the potential to provide a more accurate and timely diagnosis.
Source: Genetics in Medicine Open
Authors: Joseph Devaney, Jessica Noya, April Berlyoung, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Egor Dolzhenko, Xiao Chen, Michael Eberle, Alexander Robertson, Paul Kruszka, Gustavo Stolovitzky, Scott Newman
Institution: Pacific Biosciences (United States)
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392588893