Jack Kosmicki is a PhD student in the Bioinformatics and Integrative Genomics program at Harvard. He works jointly with Dr. Mark Daly and Dr. Dennis Wall on a number of projects ranging from examining the relationship between genetics and phenotypes in autism spectrum disorders (ASD) to utilizing machine learning algorithms to develop shorter ASD diagnostic tests.
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016;536(7616):285-91 - PMID: 27535533
Discovery of rare variants for complex phenotypes.
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Am J Hum Genet. 2015;:ePub - PMID: 25937446
Synaptic, transcriptional and chromatin genes disrupted in autism.
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.
Proc Natl Acad Sci U S A. 2014;:ePub - PMID: 25288738
A framework for the interpretation of de novo mutation in human disease.