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Showing 1–7 of 7 results
Advanced filters: Author: "Evan Eichler" Clear advanced filters

  • Structural variation in the genome can influence disease, complex traits and evolution, but comprehensive characterization of variants is challenging. This Review compares current methods — particularly microarray platforms and sequencing-based computational analysis — and considers future research strategies.

    • Can Alkan
    • Bradley P. Coe
    • Evan E. Eichler
    Reviews
    Nature Reviews Genetics
    Volume: 12, P: 363-376

  • The wealth of existing and emerging DNA-sequencing data provides an opportunity for a comprehensive understanding of human genetic variation, including the discovery of disease-causing variants. This Review describes how the limitations of current reference-genome assemblies confound the characterization of genetic variation and how this can be mitigated by important advances in algorithms and sequencing technology that facilitate thede novoassembly of genomes.

    • Mark J. P. Chaisson
    • Richard K. Wilson
    • Evan E. Eichler
    Reviews
    Nature Reviews Genetics
    Volume: 16, P: 627-640

  • The recent surge in sequencing output has uncovered a wealth of genetic variation, but interpretation of these data remains a challenge. This Review discusses computational and experimental methods for estimating the deleteriousness and functional significance of genetic variants to better identify those that are potentially causal for disease.

    • Gregory M. Cooper
    • Jay Shendure
    Reviews
    Nature Reviews Genetics
    Volume: 12, P: 628-640

  • Segmental duplications are emerging as key contributors to the evolution of primate genomes. Furthermore, determining how, and when, these duplications arose and diversified is proving to be an essential goal in understanding human phenotypic variation and disease susceptibility.

    • Jeffrey A. Bailey
    • Evan E. Eichler
    Reviews
    Nature Reviews Genetics
    Volume: 7, P: 552-564

  • What makes us human? This question can only be approached by integrating disparate disciplines, from molecular comparisons of genetic and genomic differences in humans and close evolutionary relatives, of organ-systems changes, and by considering the influence of the environment and culture.

    • Ajit Varki
    • Daniel H. Geschwind
    • Evan E. Eichler
    Reviews
    Nature Reviews Genetics
    Volume: 9, P: 749-763