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 Gene Frequency.
Connection Strength

0.283
  1. Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders. J Thromb Haemost. 2021 01; 19(1):248-254.
    View in: PubMed
    Score: 0.131
  2. Evaluating drug targets through human loss-of-function genetic variation. Nature. 2020 05; 581(7809):459-464.
    View in: PubMed
    Score: 0.032
  3. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 10; 19(10):1151-1158.
    View in: PubMed
    Score: 0.026
  4. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 04 12; 544(7649):235-239.
    View in: PubMed
    Score: 0.026
  5. 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: 0.025
  6. 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: 0.024
  7. Mendelian randomization of blood lipids for coronary heart disease. Eur Heart J. 2015 Mar 01; 36(9):539-50.
    View in: PubMed
    Score: 0.020
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.