Konrad Jan Karczewski, Ph.D.
This page shows the publications Konrad Karczewski has written about High-Throughput Nucleotide Sequencing.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386).
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.
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.
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res. 2013 May; 23(5):749-61.
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