Konrad is a research fellow in ATGU and the Broad Institute of MIT and Harvard, advised by Dr. Daniel MacArthur. His research focuses on loss-of-function (LoF) variation, in an effort of understanding the spectrum of LoF tolerance in human populations. Here, he has developed LOFTEE, the Loss-Of-Function Transcript Effect Estimator, publicly available at https://github.com/konradjk/loftee. Additionally, he works on analysis of large-scale datasets, including the Exome Aggregation Consortium (ExAC), for which he developed the ExAC browser (http://exac.broadinstitute.org/). Konrad received his PhD in 2014 in the lab of Michael Snyder at Stanford University.
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Nature. 2017;544(7649):235-239 - PMID: 28406212
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
The ExAC browser: displaying reference data information from over 60 000 exomes.
Nucleic Acids Res. 2016;:ePub - PMID: 27899611
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016;536(7616):285-91 - PMID: 27535533
Quantifying prion disease penetrance using large population control cohorts.
Sci Transl Med. 2016;8(322):322ra9 - PMID: 26791950