Author: Richard A. Gibbs

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Preprints

Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

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Gene Content Evolution in the Arthropods

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Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

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Genome-culture coevolution promotes rapid divergence in the killer whale

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The house spider genome reveals an ancient whole-genome duplication during arachnid evolution

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xAtlas: Scalable small variant calling across heterogeneous next-generation sequencing experiments

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Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome

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The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water

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Phenotypic expansion in DDX3X — a common cause of intellectual disability in females

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Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression

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Genome-enabled insights into the biology of thrips as crop pests

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A model species for agricultural pest genomics: the genome of the Colorado potato beetle, Leptinotarsa decemlineata (Coleoptera: Chrysomelidae)

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Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

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Hemimetabolous genomes reveal molecular basis of termite eusociality

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Human NK cell deficiency as a result of biallelic mutations in MCM10

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Harmonizing Clinical Sequencing And Interpretation For The eMERGE III Network

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Evaluation of computational genotyping of Structural Variations for clinical diagnoses.

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Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

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Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes

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Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques

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Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals

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Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

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Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity

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De novo mutation in ancestral generations evolves haplotypes contributing to disease

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ARBoR: An Identity and Security Solution for Clinical Reporting

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COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

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Genomic Considerations for FHIR; eMERGE Implementation Lessons

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A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

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