Genetics in Medicine Open (Jan 2024)
P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants
- 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
Affiliations
- Joseph Devaney
- GeneDx
- Jessica Noya
- GeneDx
- April Berlyoung
- GeneDx
- Aaron Johnson
- GeneDx
- Julianna Spangler
- GeneDx
- Rhonda Brandon
- GeneDx
- Kathleen Hruska
- GeneDx
- Lucas Lochovsky
- GeneDx
- Egor Dolzhenko
- Pacific Biosciences
- Xiao Chen
- Pacific Biosciences
- Michael Eberle
- Pacific Biosciences
- Alexander Robertson
- Pacific Biosciences
- Paul Kruszka
- GeneDx
- Gustavo Stolovitzky
- GeneDx
- Scott Newman
- GeneDx
- Journal volume & issue
-
Vol. 2
p. 101189