Author: Petr Danecek

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Preprints

Insights into human genetic variation and population history from 929 diverse genomes

• Downloaded 7,941 times
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  • Site-wide: 1,083
  • In genomics: 99
• Year to date:
  • Site-wide: 5,559
• Since beginning of last month:
  • Site-wide: 6,416

Continuity and admixture in the last five millennia of Levantine history from ancient Canaanite and present-day Lebanese genome sequences

• Downloaded 5,704 times
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  • Site-wide: 1,683
  • In genetics: 60
• Year to date:
  • Site-wide: 12,579
• Since beginning of last month:
  • Site-wide: 19,978

Cardelino: Integrating whole exomes and single-cell transcriptomes to reveal phenotypic impact of somatic variants

• Downloaded 4,906 times
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  • Site-wide: 2,051
  • In genomics: 210
• Year to date:
  • Site-wide: 29,765
• Since beginning of last month:
  • Site-wide: 23,399

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,588 times
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  • Site-wide: 2,260
  • In genetics: 82
• Year to date:
  • Site-wide: 81,660
• Since beginning of last month:
  • Site-wide: 104,328

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

• Downloaded 3,936 times
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  • Site-wide: 2,812
  • In genomics: 315
• Year to date:
  • Site-wide: 10,804
• Since beginning of last month:
  • Site-wide: 15,875

Very low depth whole genome sequencing in complex trait association studies

• Downloaded 2,367 times
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  • Site-wide: 5,868
  • In genetics: 273
• Year to date:
  • Site-wide: 37,717
• Since beginning of last month:
  • Site-wide: 29,717

Reference-based phasing using the Haplotype Reference Consortium panel

• Downloaded 1,881 times
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  • Site-wide: 8,242
  • In genetics: 381
• Year to date:
  • Site-wide: 57,513
• Since beginning of last month:
  • Site-wide: 71,200

Multiple laboratory mouse reference genomes define strain specific haplotypes and novel functional loci

• Downloaded 1,482 times
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  • Site-wide: 11,681
  • In genomics: 1,274
• Year to date:
  • Site-wide: 63,864
• Since beginning of last month:
  • Site-wide: 53,400

Population Genotype Calling from Low-coverage Sequencing Data

• Downloaded 1,207 times
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  • Site-wide: 15,989
  • In bioinformatics: 1,928
• Year to date:
  • Site-wide: 87,623
• Since beginning of last month:
  • Site-wide: 101,153

BCFtools/csq: Haplotype-aware variant consequences

• Downloaded 1,172 times
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  • Site-wide: 16,719
  • In bioinformatics: 2,005
• Year to date:
  • Site-wide: 103,247
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  • Site-wide: 103,440

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

• Downloaded 1,167 times
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  • Site-wide: 16,826
  • In genomics: 1,737
• Year to date:
  • Site-wide: 64,181
• Since beginning of last month:
  • Site-wide: 73,518

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

• Downloaded 1,138 times
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  • Site-wide: 17,420
  • In genetics: 849
• Year to date:
  • Site-wide: 76,167
• Since beginning of last month:
  • Site-wide: 71,182

Contribution of Retrotransposition to Developmental Disorders

• Downloaded 788 times
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  • Site-wide: 29,582
  • In genetics: 1,438
• Year to date:
  • Site-wide: 121,974
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  • Site-wide: 124,035

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

• Downloaded 780 times
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  • Site-wide: 30,037
  • In genetic and genomic medicine: 95
• Year to date:
  • Site-wide: 15,964
• Since beginning of last month:
  • Site-wide: 12,815

HTSlib - C library for reading/writing high-throughput sequencing data

• Downloaded 676 times
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  • Site-wide: 36,558
  • In bioinformatics: 4,035
• Year to date:
  • Site-wide: 12,117
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  • Site-wide: 25,160

InDelible: Detection and Evaluation of Clinically-relevant Structural Variation from Exome Sequencing

• Downloaded 260 times
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  • Site-wide: 94,205
  • In genetic and genomic medicine: 365
• Year to date:
  • Site-wide: 56,188
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  • Site-wide: 81,650

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells

• Downloaded 249 times
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  • Site-wide: 96,770
  • In genomics: 5,860
• Year to date:
  • Site-wide: 8,570
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  • Site-wide: 14,817