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 Humans.
Connection Strength

0.180
  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: 0.011
  2. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
    View in: PubMed
    Score: 0.010
  3. Integrative omics for health and disease. Nat Rev Genet. 2018 05; 19(5):299-310.
    View in: PubMed
    Score: 0.009
  4. The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic Acids Res. 2017 01 04; 45(D1):D840-D845.
    View in: PubMed
    Score: 0.008
  5. Coherent functional modules improve transcription factor target identification, cooperativity prediction, and disease association. PLoS Genet. 2014 Feb; 10(2):e1004122.
    View in: PubMed
    Score: 0.007
  6. 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: 0.007
  7. Progress in genomics according to bingo: 2013 edition. Genome Biol. 2013 Dec 24; 14(12):143.
    View in: PubMed
    Score: 0.007
  8. 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: 0.006
  9. The future of genomic medicine is here. Genome Biol. 2013 Mar 27; 14(3):304.
    View in: PubMed
    Score: 0.006
  10. Chapter 7: Pharmacogenomics. PLoS Comput Biol. 2012; 8(12):e1002817.
    View in: PubMed
    Score: 0.006
  11. Interpretome: a freely available, modular, and secure personal genome interpretation engine. Pac Symp Biocomput. 2012; 339-350.
    View in: PubMed
    Score: 0.006
  12. Cooperative transcription factor associations discovered using regulatory variation. Proc Natl Acad Sci U S A. 2011 Aug 09; 108(32):13353-8.
    View in: PubMed
    Score: 0.006
  13. Human genetic analyses of organelles highlight the nucleus in age-related trait heritability. Elife. 2021 09 01; 10.
    View in: PubMed
    Score: 0.003
  14. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. Am J Hum Genet. 2021 06 03; 108(6):1083-1094.
    View in: PubMed
    Score: 0.003
  15. 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: 0.003
  16. Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes. Blood Adv. 2020 10 27; 4(20):5232-5245.
    View in: PubMed
    Score: 0.003
  17. 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: 0.003
  18. 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: 0.003
  19. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451.
    View in: PubMed
    Score: 0.003
  20. Evaluating drug targets through human loss-of-function genetic variation. Nature. 2020 05; 581(7809):459-464.
    View in: PubMed
    Score: 0.003
  21. Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458.
    View in: PubMed
    Score: 0.003
  22. The effect of LRRK2 loss-of-function variants in humans. Nat Med. 2020 06; 26(6):869-877.
    View in: PubMed
    Score: 0.003
  23. Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. Genome Res. 2018 07; 28(7):968-974.
    View in: PubMed
    Score: 0.002
  24. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am J Hum Genet. 2018 06 07; 102(6):1204-1211.
    View in: PubMed
    Score: 0.002
  25. 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: 0.002
  26. Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland. Am J Hum Genet. 2018 05 03; 102(5):760-775.
    View in: PubMed
    Score: 0.002
  27. Landscape of X chromosome inactivation across human tissues. Nature. 2017 10 11; 550(7675):244-248.
    View in: PubMed
    Score: 0.002
  28. 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: 0.002
  29. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 10; 19(10):1151-1158.
    View in: PubMed
    Score: 0.002
  30. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386).
    View in: PubMed
    Score: 0.002
  31. 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: 0.002
  32. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr; 49(4):504-510.
    View in: PubMed
    Score: 0.002
  33. Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing. PLoS Comput Biol. 2017 01; 13(1):e1005278.
    View in: PubMed
    Score: 0.002
  34. 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: 0.002
  35. 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: 0.002
  36. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91.
    View in: PubMed
    Score: 0.002
  37. 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: 0.002
  38. 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: 0.002
  39. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9.
    View in: PubMed
    Score: 0.002
  40. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6.
    View in: PubMed
    Score: 0.002
  41. 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: 0.002
  42. 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: 0.002
  43. 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: 0.002
  44. 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: 0.002
  45. 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: 0.002
  46. 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: 0.002
  47. Mendelian randomization of blood lipids for coronary heart disease. Eur Heart J. 2015 Mar 01; 36(9):539-50.
    View in: PubMed
    Score: 0.002
  48. Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. Hum Mol Genet. 2014 May 01; 23(9):2498-510.
    View in: PubMed
    Score: 0.002
  49. 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: 0.002
  50. Pathway analysis of genome-wide data improves warfarin dose prediction. BMC Genomics. 2013; 14 Suppl 3:S11.
    View in: PubMed
    Score: 0.002
  51. 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: 0.002
  52. Extensive genetic variation in somatic human tissues. Proc Natl Acad Sci U S A. 2012 Oct 30; 109(44):18018-23.
    View in: PubMed
    Score: 0.002
  53. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 2012 Sep; 22(9):1790-7.
    View in: PubMed
    Score: 0.001
  54. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 2012 Mar 16; 148(6):1293-307.
    View in: PubMed
    Score: 0.001
  55. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol. 2011 Sep 25; 29(10):908-14.
    View in: PubMed
    Score: 0.001
  56. 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: 0.001
  57. Bioinformatics challenges for personalized medicine. Bioinformatics. 2011 Jul 01; 27(13):1741-8.
    View in: PubMed
    Score: 0.001
  58. Regulatory variation within and between species. Annu Rev Genomics Hum Genet. 2011; 12:327-46.
    View in: PubMed
    Score: 0.001
  59. Variation in transcription factor binding among humans. Science. 2010 Apr 09; 328(5975):232-5.
    View in: PubMed
    Score: 0.001
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.