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Author: Konrad Karczewski

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  • All-time downloads: 105,021 (rank: 289 out of 426,228)
  • Categories:
    • genetics: 6,192 (rank: 2,916 out of 38,003)
    • genomics: 98,829 (rank: 33 out of 44,644)

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Preprints

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

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

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    • In genomics: 9 out of 6,255
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Analysis of protein-coding genetic variation in 60,706 humans

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An open resource of structural variation for medical and population genetics

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Regional missense constraint improves variant deleteriousness prediction

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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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Using high-resolution variant frequencies to empower clinical genome interpretation

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

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Transcript expression-aware annotation improves rare variant discovery and interpretation

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Efficient genotype compression and analysis of large genetic variation datasets

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    • In genomics: 360 out of 6,255
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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

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    • Site-wide: 19,726 out of 100,904

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

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    • Site-wide: 17,693 out of 100,904

Landscape of X chromosome inactivation across human tissues

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

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    • Site-wide: 24,116 out of 100,904

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

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    • In genetics: 477 out of 5,022
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    • Site-wide: 84,466 out of 100,904
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    • Site-wide: 75,607 out of 100,904

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

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  • Downloaded 1,492 times
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    • Site-wide: 6,904 out of 100,904
    • In genomics: 1,064 out of 6,255
  • Year to date:
    • Site-wide: 11,582 out of 100,904
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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

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

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    • In genomics: 1,285 out of 6,255
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    • Site-wide: 74,147 out of 100,904

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

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    • In genomics: 1,567 out of 6,255
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Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

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

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    • In genetics: 807 out of 5,022
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    • Site-wide: 63,878 out of 100,904
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The ExAC Browser: Displaying reference data information from over 60,000 exomes

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    • In genomics: 1,687 out of 6,255
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    • Site-wide: 95,894 out of 100,904
  • Since beginning of last month:
    • Site-wide: 90,572 out of 100,904

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

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    • Site-wide: 18,999 out of 100,904
    • In genomics: 2,274 out of 6,255
  • Year to date:
    • Site-wide: 27,876 out of 100,904
  • Since beginning of last month:
    • Site-wide: 19,503 out of 100,904

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 664 times
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    • Site-wide: 25,159 out of 100,904
    • In genomics: 2,738 out of 6,255
  • Year to date:
    • Site-wide: 85,048 out of 100,904
  • Since beginning of last month:
    • Site-wide: 62,603 out of 100,904

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