Jack A. Kosmicki

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text

Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 9.6K citations · Full text

Predicting Splicing from Primary Sequence with Deep Learning

Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F. McRae et al. · Cell · 2019 · 2.7K citations · Full text

Sequence Modelling, Engineering, Genetics +7

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang et al. · Cell · 2020 · 2.3K citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Developmental Biology +11

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · 2019 · 1.8K citations · Full text

Genetics, Genomics, Clinical Genetics +22