Harvard Catalyst Profiles

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Konrad Jan Karczewski, Ph.D.

Concepts

This page shows the publications Konrad Karczewski has written about Polymorphism, Single Nucleotide.
  1. 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: 0.035
  2. Mendelian randomization of blood lipids for coronary heart disease. Eur Heart J. 2015 Mar 01; 36(9):539-50.
    View in: PubMed
    Score: 0.034
  3. Pathway analysis of genome-wide data improves warfarin dose prediction. BMC Genomics. 2013; 14 Suppl 3:S11.
    View in: PubMed
    Score: 0.032
  4. Systematic functional regulatory assessment of disease-associated variants. Proc Natl Acad Sci U S A. 2013 Jun 04; 110(23):9607-12.
    View in: PubMed
    Score: 0.032
  5. The future of genomic medicine is here. Genome Biol. 2013 Mar 27; 14(3):304.
    View in: PubMed
    Score: 0.032
  6. Interpretome: a freely available, modular, and secure personal genome interpretation engine. Pac Symp Biocomput. 2012; 339-350.
    View in: PubMed
    Score: 0.029
  7. Variation in transcription factor binding among humans. Science. 2010 Apr 09; 328(5975):232-5.
    View in: PubMed
    Score: 0.026
  8. Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power. Nat Genet. 2021 02; 53(2):195-204.
    View in: PubMed
    Score: 0.014
  9. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451.
    View in: PubMed
    Score: 0.013
  10. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 2018 05; 14(5):e1007329.
    View in: PubMed
    Score: 0.011
  11. Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. Nat Commun. 2017 08 29; 8(1):382.
    View in: PubMed
    Score: 0.011
  12. Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. Nat Commun. 2016 10 31; 7:13293.
    View in: PubMed
    Score: 0.010
  13. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet. 2016 10; 48(10):1107-11.
    View in: PubMed
    Score: 0.010
  14. Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. Genome Med. 2015 Oct 01; 7:90.
    View in: PubMed
    Score: 0.010
  15. Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration. J Lipid Res. 2015 Sep; 56(9):1781-6.
    View in: PubMed
    Score: 0.009
  16. Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans. Blood. 2014 Oct 02; 124(14):2298-305.
    View in: PubMed
    Score: 0.009
  17. Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am J Hum Genet. 2014 Mar 06; 94(3):349-60.
    View in: PubMed
    Score: 0.009
  18. 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: 0.008
  19. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 2012 Sep; 22(9):1790-7.
    View in: PubMed
    Score: 0.008
  20. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol. 2011 Sep 25; 29(10):908-14.
    View in: PubMed
    Score: 0.007
  21. Bioinformatics challenges for personalized medicine. Bioinformatics. 2011 Jul 01; 27(13):1741-8.
    View in: PubMed
    Score: 0.007
Connection Strength

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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.