Author: Evan E. Eichler

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Preprints

Efficient de novo assembly of eleven human genomes using PromethION sequencing and a novel nanopore toolkit

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Single cell epigenomic atlas of the developing human brain and organoids

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  • In developmental biology: 10
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Extended haplotype phasing of de novo genome assemblies with FALCON-Phase

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  • In genomics: 273
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The structure, function, and evolution of a complete human chromosome 8

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Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

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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: 106
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Comparative Annotation Toolkit (CAT) - simultaneous clade and personal genome annotation

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  • In bioinformatics: 1,103
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High-Quality Assembly of an Individual of Yoruban Descent

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SMRT sequencing yields the chromosome-scale reference genome of tea tree, Camellia sinensis var. sinensis

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Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

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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

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  • In neuroscience: 4,303
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A human-specific structural variation at the ZNF558 locus controls a gene regulatory network during forebrain development

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Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants

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The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders

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  • In neuroscience: 7,651
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Stochasticity explains differences in the number of de novo mutations between families

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