130 citations · 207 across the 3 of their papers we have counts for
3 papers
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha +21
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise…
A multi-modal neural network for learning cis and trans regulation of stress response in yeast
Boxiang Liu, Nadine Hussami, Avanti Shrikumar +5
Deciphering gene regulatory networks is a central problem in computational biology. Here, we explore the use of multi-modal neural networks to learn predictive models of gene expre…
High-resolution transcriptome analysis with long-read RNA sequencing
Hyunghoon Cho, Joe Davis, Xin Li +3
RNA sequencing (RNA-seq) enables characterization and quantification of individual transcriptomes as well as detection of patterns of allelic expression and alternative splicing. C…