Perspectives

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  • Combining genomic data with CRISPR, hiPSC and organoid technologies provides platforms to study the complex genetic architectures of brain disease. These studies could improve genetic diagnosis, drive drug discovery and move the field toward precision medicine.

    • Michael B. Fernando
    • Tim Ahfeldt
    • Kristen J. Brennand
    Perspective
  • This Perspective discusses how best to interpret pLI, a measure widely used to identify genes that are intolerant to a single copy of a truncating mutation, by relating this and related measures to the underlying population-genetic theory.

    • Zachary L. Fuller
    • Jeremy J. Berg
    • Molly Przeworski
    Perspective
  • Transcriptome-wide association studies (TWAS) prioritize candidate causal genes at GWAS loci. This Perspective discusses the challenges to TWAS analysis, caveats to interpretation of results and opportunities for improvements to this class of methods.

    • Michael Wainberg
    • Nasa Sinnott-Armstrong
    • Anshul Kundaje
    Perspective
  • This perspective presents a primer on deep learning applications for the genomics field. It includes a general guide for how to use deep learning and describes the current tools and resources that are available to the community.

    • James Zou
    • Mikael Huss
    • Amalio Telenti
    Perspective
  • Mitochondrial variants are important to consider when analyzing the genetics of various metabolic or age-related diseases. These mtDNA variants can influence the penetrance of a phenotype or interact differentially with nuclear DNA variants.

    • Douglas C. Wallace
    Perspective
  • This proposal calls for the initiation of national population-screening programs to identify carriers of cancer gene mutations for long-term, large-scale analysis of longitudinal clinical data to aid in prevention and early detection of disease.

    • Clare Turnbull
    • Amit Sud
    • Richard S. Houlston
    Perspective
  • This Perspective describes different study designs for the genetic analyses of large-scale cohorts, using Dutch cohorts as primary examples, and discusses lessons learned as well as recommendations for future cohort studies.

    • Cisca Wijmenga
    • Alexandra Zhernakova
    Perspective
  • Wayne Powell and colleagues compare the different tools and approaches used by the plant breeding community versus the animal breeding community for crop and livestock improvement. They argue that the two disciplines can be united via adoption of genomic selection along with the exchange of resources and techniques between the two areas.

    • John M Hickey
    • Tinashe Chiurugwi
    • Yoseph Beyene
    Perspective
  • Jian Yang and colleagues explore the uses and abuses of heritability estimates derived from pedigrees and from GWAS SNPs and make recommendations for best practice in future applications of SNP-based heritability.

    • Jian Yang
    • Jian Zeng
    • Peter M Visscher
    Perspective
  • Carrolee Barlow, J. William Langston, Birgitt Schüle and colleagues review the current classification of parkinsonian disorders. They propose the term 'multisystem Lewy body disease' to encompass three genetic subtypes of Parkinson's disease and distinguish this from other non–Lewy body parkinsonian disorders.

    • J William Langston
    • Birgitt Schüle
    • Carrolee Barlow
    Perspective
  • Jason Lieb and Sebastian Pott review the identification and composition of super-enhancers and ask whether super-enhancers are a new, conceptually distinct regulatory entity.

    • Sebastian Pott
    • Jason D Lieb
    Perspective
  • Jake Gratten and colleagues discuss challenges in interpreting the role of de novo mutations in neuropsychiatric and other complex diseases. They argue that the burden of proof for causality for a single de novo mutation must be set high and that curation of de novo mutations and their associated phenotypes in databases will be critical for the robust interpretation of exome sequencing studies.

    • Jacob Gratten
    • Peter M Visscher
    • Naomi R Wray
    Perspective