Hypothesis-free phenotype prediction within a genetics-first framework
Chang Lu, Jan Maciej Zaucha, Rihab Gam, Hai Fang, Ben Smithers, Matt E. Oates, Miguel Bernabé‐Rubio, James H. Williams, Natalie Zelenka, Arun Prasad Pandurangan, Himani Tandon, Hashem A. Shihab, Raju Kalaivani, Minkyung Sung, Adam J. Sardar, , Julian Gough
The paper presents a genetics-first framework using molecular knowledge to predict phenotypes from rare coding variants in a direct-to-consumer genotype cohort, identifying novel genetic causes for developmental disorders.
Nature Communications · Feb 17, 2023Peer-reviewedGenomics