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Author: Konrad Karczewski

  • ORCiD: http://orcid.org/0000-0003-2878-4671
  • Most recently observed institution: Program in Medical and Population Genetics, Broad Institute; Analytic and Translational Genetics Unit, Massachusetts General Hospital

Rankings

  • All-time downloads: 127,205 (rank: 938 )
  • Categories:
    • bioinformatics: 211 (rank: 40,492 (tie) )
    • genetic and genomic medicine: 12,226 (rank: 44 )
    • genetics: 6,880 (rank: 3,060 )
    • genomics: 107,888 (rank: 45 )

Downloads per author, site-wide

Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

genomics more details view paper
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    • Site-wide: 339
    • In genomics: 11
  • Year to date:
    • Site-wide: 2,962
  • Since beginning of last month:
    • Site-wide: 5,603

Analysis of protein-coding genetic variation in 60,706 humans

genomics more details view paper
  • Downloaded 22,173 times
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    • Site-wide: 388
    • In genomics: 13
  • Year to date:
    • Site-wide: 29,805
  • Since beginning of last month:
    • Site-wide: 103,737

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,252 times
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    • Site-wide: 894
    • In genomics: 62
  • Year to date:
    • Site-wide: 11,856
  • Since beginning of last month:
    • Site-wide: 27,160

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 9,365 times
  • Download rankings, all-time:
    • Site-wide: 1,118
    • In genomics: 75
  • Year to date:
    • Site-wide: 1,916
  • Since beginning of last month:
    • Site-wide: 1,743

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,666 times
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    • Site-wide: 2,157
    • In genomics: 186
  • Year to date:
    • Site-wide: 39,862
  • Since beginning of last month:
    • Site-wide: 39,053

Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
  • Downloaded 5,235 times
  • Download rankings, all-time:
    • Site-wide: 2,376
    • In genomics: 207
  • Year to date:
    • Site-wide: 8,303
  • Since beginning of last month:
    • Site-wide: 18,939

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

genetic and genomic medicine more details view paper
  • Downloaded 5,209 times
  • Download rankings, all-time:
    • Site-wide: 2,392
    • In genetic and genomic medicine: 11
  • Year to date:
    • Site-wide: 999
  • Since beginning of last month:
    • Site-wide: 1,200

Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
  • Downloaded 5,054 times
  • Download rankings, all-time:
    • Site-wide: 2,511
    • In genomics: 235
  • Year to date:
    • Site-wide: 56,606
  • Since beginning of last month:
    • Site-wide: 102,895

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,966 times
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    • Site-wide: 3,508
    • In genomics: 355
  • Year to date:
    • Site-wide: 29,802
  • Since beginning of last month:
    • Site-wide: 69,725

Efficient genotype compression and analysis of large genetic variation datasets

genomics more details view paper
  • Downloaded 3,434 times
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    • Site-wide: 4,279
    • In genomics: 430
  • Year to date:
    • Site-wide: 73,070
  • Since beginning of last month:
    • Site-wide: 83,335

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

genomics more details view paper
  • Downloaded 3,242 times
  • Download rankings, all-time:
    • Site-wide: 4,656
    • In genomics: 465
  • Year to date:
    • Site-wide: 62,400
  • Since beginning of last month:
    • Site-wide: 76,543

Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes

genetic and genomic medicine more details view paper
  • Downloaded 3,125 times
  • Download rankings, all-time:
    • Site-wide: 4,885
    • In genetic and genomic medicine: 20
  • Year to date:
    • Site-wide: 916
  • Since beginning of last month:
    • Site-wide: None

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

genetics more details view paper
  • Downloaded 2,655 times
  • Download rankings, all-time:
    • Site-wide: 6,189
    • In genetics: 256
  • Year to date:
    • Site-wide: 23,094
  • Since beginning of last month:
    • Site-wide: 23,428

A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 2,467 times
  • Download rankings, all-time:
    • Site-wide: 6,914
    • In genetic and genomic medicine: 30
  • Year to date:
    • Site-wide: 1,251
  • Since beginning of last month:
    • Site-wide: 4,959

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 2,106 times
  • Download rankings, all-time:
    • Site-wide: 8,687
    • In genomics: 873
  • Year to date:
    • Site-wide: 99,920
  • Since beginning of last month:
    • Site-wide: 135,442

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

genomics more details view paper
  • Downloaded 2,059 times
  • Download rankings, all-time:
    • Site-wide: 8,968
    • In genomics: 903
  • Year to date:
    • Site-wide: 57,886
  • Since beginning of last month:
    • Site-wide: 44,369

Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

genomics more details view paper
  • Downloaded 1,679 times
  • Download rankings, all-time:
    • Site-wide: 12,109
    • In genomics: 1,217
  • Year to date:
    • Site-wide: 15,198
  • Since beginning of last month:
    • Site-wide: 33,555

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

genomics more details view paper
  • Downloaded 1,625 times
  • Download rankings, all-time:
    • Site-wide: 12,702
    • In genomics: 1,284
  • Year to date:
    • Site-wide: 90,131
  • Since beginning of last month:
    • Site-wide: 84,517

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

genetics more details view paper
  • Downloaded 1,557 times
  • Download rankings, all-time:
    • Site-wide: 13,487
    • In genetics: 601
  • Year to date:
    • Site-wide: 144,944
  • Since beginning of last month:
    • Site-wide: 135,076

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
  • Downloaded 1,501 times
  • Download rankings, all-time:
    • Site-wide: 14,308
    • In genetics: 644
  • Year to date:
    • Site-wide: 118,138
  • Since beginning of last month:
    • Site-wide: 115,641

Determining the impact of putative loss-of-function variants in protein-coding genes

genomics more details view paper
  • Downloaded 1,390 times
  • Download rankings, all-time:
    • Site-wide: 16,118
    • In genomics: 1,564
  • Year to date:
    • Site-wide: 118,418
  • Since beginning of last month:
    • Site-wide: 131,315

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

genomics more details view paper
  • Downloaded 1,172 times
  • Download rankings, all-time:
    • Site-wide: 20,813
    • In genomics: 1,967
  • Year to date:
    • Site-wide: 145,717
  • Since beginning of last month:
    • Site-wide: 145,920

Haplotype sharing provides insights into fine-scale population history and disease in Finland

genetics more details view paper
  • Downloaded 1,167 times
  • Download rankings, all-time:
    • Site-wide: 20,923
    • In genetics: 938
  • Year to date:
    • Site-wide: 97,203
  • Since beginning of last month:
    • Site-wide: 135,121

The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
  • Downloaded 1,098 times
  • Download rankings, all-time:
    • Site-wide: 22,853
    • In genomics: 2,143
  • Year to date:
    • Site-wide: 152,715
  • Since beginning of last month:
    • Site-wide: 148,929

Insights from complex trait fine-mapping across diverse populations

genetic and genomic medicine more details view paper
  • Downloaded 1,053 times
  • Download rankings, all-time:
    • Site-wide: 24,354
    • In genetic and genomic medicine: 106
  • Year to date:
    • Site-wide: 3,905
  • Since beginning of last month:
    • Site-wide: 271

Technical artifact drives apparent deviation from Hardy-Weinberg equilibrium at CCR5-Δ32 and other variants in gnomAD

genomics more details view paper
  • Downloaded 1,049 times
  • Download rankings, all-time:
    • Site-wide: 24,479
    • In genomics: 2,270
  • Year to date:
    • Site-wide: 44,920
  • Since beginning of last month:
    • Site-wide: 25,613

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

genomics more details view paper
  • Downloaded 733 times
  • Download rankings, all-time:
    • Site-wide: 40,799
    • In genomics: 3,298
  • Year to date:
    • Site-wide: 128,041
  • Since beginning of last month:
    • Site-wide: 135,320

Biological insights from the whole genome analysis of human embryonic stem cells

genomics more details view paper
  • Downloaded 519 times
  • Download rankings, all-time:
    • Site-wide: 63,283
    • In genomics: 4,526
  • Year to date:
    • Site-wide: 34,436
  • Since beginning of last month:
    • Site-wide: 35,528

Set-based rare variant association tests for biobank scale sequencing data sets

genetic and genomic medicine more details view paper
  • Downloaded 372 times
  • Download rankings, all-time:
    • Site-wide: 88,845
    • In genetic and genomic medicine: 418
  • Year to date:
    • Site-wide: 18,326
  • Since beginning of last month:
    • Site-wide: 5,045

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants

bioinformatics more details view paper
  • Downloaded 211 times
  • Download rankings, all-time:
    • Site-wide: 128,622
    • In bioinformatics: 10,213
  • Year to date:
    • Site-wide: 39,430
  • Since beginning of last month:
    • Site-wide: 104,952

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