Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
Ana S.A. Cohen, Emily Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan Manickavasagam Amudhavalli, John T. Anderson, Lalit R. Bansal, Lauren E. Bartik, Primo A. Baybayan, Bradley Belden, Courtney Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion J. Buske, Shreyasee Chakraborty, , Tomi Pastinen
The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.
Genetics in Medicine · Mar 16, 2022Peer-reviewedGenetic & Genomic Medicine