Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Konrad Jan Karczewski, Ph.D.


This page shows the publications Konrad Karczewski has written about High-Throughput Nucleotide Sequencing.
  1. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386).
    View in: PubMed
    Score: 0.071
  2. Small RNA Sequencing in Cells and Exosomes Identifies eQTLs and 14q32 as a Region of Active Export. G3 (Bethesda). 2017 01 05; 7(1):31-39.
    View in: PubMed
    Score: 0.017
  3. Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. Am J Hum Genet. 2014 Sep 04; 95(3):245-56.
    View in: PubMed
    Score: 0.015
  4. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res. 2013 May; 23(5):749-61.
    View in: PubMed
    Score: 0.013
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.