Asya Stepansky

TL;DR: It is shown that with flow-sorted nuclei, whole genome amplification and next generation sequencing the authors can accurately quantify genomic copy number within an individual nucleus and indicate that tumours grow by punctuated clonal expansions with few persistent intermediates.

TL;DR: Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveals de novo small indels and point substitutions, which suggest FMRP-associated genes are especially dosage-sensitive targets of cognitive disorders.

TL;DR: A protocol that allows for the genome-wide copy number analysis of single nuclei isolated from mixed populations of cells is presented and informatic approaches that correct for biases inherent in the WGA procedure and allow for accurate determination of copy number profiles are outlined.

TL;DR: The results show that both prior to and following induction, specific DNA-binding proteins are the predominant determinants of chromatin architecture at the GAL1/10 genes.

TL;DR: The timeframe of tumor evolution in response to therapy is demonstrated and a framework for the multi-scale analysis of fluid biopsies to quantify and monitor disease evolution in individual patients is provided.