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Showing 1–5 of 5 results
Advanced filters: Author: Jennifer Troge Clear advanced filters

  • Family-based exome sequencing in a large autism study has identified 27 high-confidence gene targets and accurately estimates the contribution of both de novo gene-disrupting and missense mutations to the incidence of simplex autism, with target genes in affected females overlapping those in males of lower but not higher IQ; targets also overlap known targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes.

    • Ivan Iossifov
    • Brian J. O’Roak
    • Michael Wigler
    Research
    Nature
    Volume: 515, P: 216-221

  • Although it is known that tumours are genetically heterogeneous it has so far been difficult to dissect this heterogeneity at a single cell level. This paper combines whole-genome amplification and next-generation sequencing of flow-sorted nuclei from breast tumours to investigate their population structure and evolution. In contrast to gradual models of tumour progression, the results indicate that tumours grow by punctuated clonal expansions with few persistent intermediates.

    • Nicholas Navin
    • Jude Kendall
    • Michael Wigler
    Research
    Nature
    Volume: 472, P: 90-94