Konrad Jan Karczewski, Ph.D.
This page shows the publications Konrad Karczewski has written about Molecular Sequence Annotation.
Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458.
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. Nat Commun. 2017 08 29; 8(1):382.
Coherent functional modules improve transcription factor target identification, cooperativity prediction, and disease association. PLoS Genet. 2014 Feb; 10(2):e1004122.
Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 2012 Sep; 22(9):1790-7.
A new system for comparative functional genomics of Saccharomyces yeasts. Genetics. 2013 Sep; 195(1):275-87.
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