The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology

Diffraction-specific fringe computation for electro-holography

Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 1994.Vita.Includes bibliographical references (p. 169-173).by Mark Lucente.Ph.D

Optimization of hologram computation for real-time display

Several methods of increasing the speed and simplicity of the computation of off-axis transmission holograms are presented, with applications to the real-time display of holographic images. A bipolar intensity approach enables a linear summation of interference fringes, a factor of two speed increase, and the elimination of image noise caused by object self-interference. An order of magnitude speed increase is obtained through the use of precomputed look-up tables containing a large array of elemental interference patterns corresponding to point source contributions from each of the possible locations in image space. Results achieved using a data-parallel supercomputer to compute horizontal-parallax-only holographic patterns containing 6 megasamples indicate that an image comprised of 10,000 points with arbitrary brightness (grayscale) can be computed in under one second

Interactive three-dimensional holographic displays: seeing the future in depth

the future in dept

[Book chapter for “Holography- The First 50 Years ”. Draft: 2003.] Interactive holographic displays: the first 10 years

This chapter reviews the first ten years of interactive electro-holographic displays- from its first instance in 1990 through innovations in computational approaches and optical modulation schemes. The enormous bandwidths required to image three-dimensional (3-D) holographic images interactively are examined, along with descriptions of techniques used to overcome the limitations placed upon fringe computation and optical modulation. Included are the techniques of diffraction-specific fringe computation, computa-tional stereograms, and bipolar fringe computation, as well the scanned acousto-optic modulation technique used in early display systems. Nearly a century passed between the invention of still photography in the nineteenth century and the subse-quent invention of interactive two-dimensional imaging, such as computer-generated graphics and multimedia and video games. Three-dimensional (3-D) holographic imaging became interactive in les