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Author: Evan E. Eichler

Rankings

  • All-time downloads: 56,588 (rank: 636 out of 383,682)
  • Categories:
    • bioinformatics: 12,803 (rank: 380 out of 32,826)
    • developmental biology: 5,977 (rank: 95 out of 14,859)
    • evolutionary biology: 724 (rank: 7,073 (tie) out of 19,647)
    • genetics: 22,620 (rank: 287 out of 35,444)
    • genomics: 11,613 (rank: 1,171 out of 40,825)
    • neuroscience: 2,851 (rank: 5,068 (tie) out of 64,312)

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Preprints

Ancient human genomes suggest three ancestral populations for present-day Europeans

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Telomere-to-telomere assembly of a complete human X chromosome

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Computational Pan-Genomics: Status, Promises and Challenges

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Single cell epigenomic atlas of the developing human brain and organoids

developmental biology more details view paper
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Neurodevelopmental disease genes implicated by de novo mutation and CNV morbidity

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Extended haplotype phasing of de novo genome assemblies with FALCON-Phase

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Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

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Human-specific NOTCH-like genes in a region linked to neurodevelopmental disorders affect cortical neurogenesis

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Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution

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    • In developmental biology: 57 out of 2,664
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HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

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A fully phased accurate assembly of an individual human genome

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Comparative Annotation Toolkit (CAT) - simultaneous clade and personal genome annotation

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Discovery of large genomic inversions using pooled clone sequencing

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High-Quality Assembly of an Individual of Yoruban Descent

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    • In bioinformatics: 1,254 out of 8,443
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Functional Characterization of the Morpheus Gene Family

evolutionary biology more details view paper
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    • In evolutionary biology: 1,196 out of 5,474
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A hundred genes implicated in intellectual disability and autism regulate habituation learning and reveal an opposing role for Ras-MAPK signaling in inhibitory and excitatory neurons

neuroscience more details view paper
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A novel framework for characterizing genomic haplotype diversity in the human immunoglobulin heavy chain locus

genomics more details view paper
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