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Showing 1–7 of 7 results
Advanced filters: Author: Alex Bloemendal Clear advanced filters

  • Variant-to-gene-to-program is a new approach to building maps of genome function to link risk variants to disease genes and to convergent signalling pathways in an unbiased manner; its strength is demonstrated in coronary artery disease.

    • Gavin R. Schnitzler
    • Helen Kang
    • Jesse M. Engreitz
    Research
    Nature
    Volume: 626, P: 799-807

  • Linkage disequilibrium graphical models (LDGMs) derived from genome-wide genealogies provide an efficient representation of LD, yielding large improvements in runtime for LD matrix computations. LDGMs will enable methods that scale to millions of variants and individuals.

    • Pouria Salehi Nowbandegani
    • Anthony Wilder Wohns
    • Luke J. O’Connor
    Research
    Nature Genetics
    Volume: 55, P: 1494-1502

  • Some cancer patients first present with metastases where the ___location of the primary is unidentified; these are difficult to treat. In this study, using machine learning, the authors develop a method to determine the tissue of origin of a cancer based on whole sequencing data.

    • Wei Jiao
    • Gurnit Atwal
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12

  • Advanced paternal age associates with increased risk for psychiatric and developmental disorders in offspring. Here, Taylor et al. utilize parent-child trio exome sequencing data sets to estimate the contribution of paternal age-related de novo mutations to multiple disorders, including heart disease and schizophrenia.

    • Jacob L. Taylor
    • Jean-Christophe P. G. Debost
    • Elise B. Robinson
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-9

  • Rare genetic mutations that disrupt the functionality of important genes increase the risk of psychiatric and neurodevelopmental disorder. This study found that, in the general population not diagnosed with such disorders, these same mutations affect the average educational level. Carriers of these mutations have on average half a semester less of education than noncarriers.

    • Andrea Ganna
    • Giulio Genovese
    • Benjamin M Neale
    Research
    Nature Neuroscience
    Volume: 19, P: 1563-1565