Harvard Catalyst Profiles

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

Konrad Jan Karczewski, Ph.D.

Concepts

This page shows the publications Konrad Karczewski has written about Genome, Human.
Connection Strength

1.200
  1. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
    View in: PubMed
    Score: 0.324
  2. STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud. PLoS One. 2014; 9(1):e84860.
    View in: PubMed
    Score: 0.208
  3. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2020 05 27; 11(1):2539.
    View in: PubMed
    Score: 0.081
  4. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451.
    View in: PubMed
    Score: 0.081
  5. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015 May 08; 348(6235):666-9.
    View in: PubMed
    Score: 0.057
  6. 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: 0.054
  7. Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine. PLoS One. 2013; 8(7):e68853.
    View in: PubMed
    Score: 0.050
  8. Pathway analysis of genome-wide data improves warfarin dose prediction. BMC Genomics. 2013; 14 Suppl 3:S11.
    View in: PubMed
    Score: 0.050
  9. 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: 0.049
  10. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 2012 Sep; 22(9):1790-7.
    View in: PubMed
    Score: 0.047
  11. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 2012 Mar 16; 148(6):1293-307.
    View in: PubMed
    Score: 0.046
  12. Interpretome: a freely available, modular, and secure personal genome interpretation engine. Pac Symp Biocomput. 2012; 339-350.
    View in: PubMed
    Score: 0.045
  13. Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2020 05 27; 11(1):2523.
    View in: PubMed
    Score: 0.020
  14. Landscape of X chromosome inactivation across human tissues. Nature. 2017 10 11; 550(7675):244-248.
    View in: PubMed
    Score: 0.017
  15. 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: 0.016
  16. 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: 0.016
  17. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016 Apr 22; 352(6284):474-7.
    View in: PubMed
    Score: 0.015
  18. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol. 2011 Sep 25; 29(10):908-14.
    View in: PubMed
    Score: 0.011
  19. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet. 2011 Sep; 7(9):e1002280.
    View in: PubMed
    Score: 0.011
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.