AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
Johannes Birgmeier(Stanford University), Gill Bejerano(Stanford University), Karthik A. Jagadeesh(Vel Tech Rangarajan Dr. Sagunthala R&D Institute of Science and Technology), D.N. Cooper(University of Wales Institute Cardiff), Mark Diekhans(University of California, Santa Cruz), Peter D. Stenson(Cardiff University), Alan H. Beggs(Boston Children's Hospital), Harendra Guturu(Stanford Medicine), Maximilian Haeussler(University of California, Santa Cruz), Alexander Ratner(Stanford University), Aaron M. Wenger(Stanford University), Jonathan A. Bernstein(Stanford Medicine), Cole A. Deisseroth(Stanford University), Christopher Ré(Johnson Space Center), Ethan Steinberg(Stanford University)
Cited by 125
Related Papers
Analysis of protein-coding genetic variation in 60,706 humans
|Nature|2016|10.3k
The complete sequence of a human genome
|Science|2022|3.3k
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
|Nature Biotechnology|2019|2k
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
|Nature Genetics|2000|1.3k