Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Welland MJ, Ahlquist KD, De Fazio P, Austin-Tse C, Pais L, Wedd L, Bryen S, Rius R, Franklin M, Morrison C, Hall G, Gauthier L, Bloemendal A, Francis DI, Mallett AJ, Mallawaarachchi A, Lockhart PJ, Leventer R, Scheffer IE, Howell KB, Kassahn KS, Scott HS, McGaughran J, Christodoulou J, Thorburn DR, Thompson BA, Patel CV, Smith G, O'Donnell-Luria A, Sadedin S, Rehm HL, Lunke S, Wander J, Samocha KE, Simons C, MacArthur DG, Stark Z.
Welland MJ, et al. Among authors: ahlquist kd.
medRxiv [Preprint]. 2025 May 21:2025.05.19.25327921. doi: 10.1101/2025.05.19.25327921.
medRxiv. 2025.
PMID: 40661289
Free PMC article.
Preprint.