A5027174942- Genomics and Rare Diseases
- EEG and Brain-Computer Interfaces
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Neuroscience and Neural Engineering
- Genetics, Bioinformatics, and Biomedical Research
- Parallel Computing and Optimization Techniques
- Neural dynamics and brain function
- Distributed and Parallel Computing Systems
- Muscle activation and electromyography studies
- Advanced Data Storage Technologies
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Genetic factors in colorectal cancer
- Scientific Computing and Data Management
- Single-cell and spatial transcriptomics
- Cell Image Analysis Techniques
- Hepatitis C virus research
- Genomics and Phylogenetic Studies
- Ethics in Clinical Research
- Bioinformatics and Genomic Networks
- Advanced Memory and Neural Computing
- CRISPR and Genetic Engineering
- Diabetes Treatment and Management
- Embedded Systems Design Techniques
Middlebury College
2017-2024
Icahn School of Medicine at Mount Sinai
2013-2019
Janssen Scientific Affairs (United States)
2017
Institut thématique Génétique, génomique et bioinformatique
2017
Janssen (United States)
2017
Stanford University
2006-2016
International Neuromodulation Society
2013
The University of Texas MD Anderson Cancer Center
2012
In this paper we propose the Merge framework, a general purpose programming model for heterogeneous multi-core systems. The framework replaces current ad hoc approaches to parallel on platforms with rigorous, library-based methodology that can automatically distribute computation across cores achieve increased energy and performance efficiency. provides (1) predicate dispatch-based library system managing invoking function variants multiple architectures; (2) high-level, library-oriented...
Whole exome/genome sequencing (WES/WGS) is increasingly offered to ostensibly healthy individuals. Understanding the motivations and concerns of research participants seeking out personal WGS their preferences regarding return-of-results data sharing will help optimize protocols for WES/WGS. Baseline interviews including both qualitative quantitative components were conducted with (n=35) in HealthSeq project, a longitudinal cohort study individuals receiving results. Data recorded during...
Whole exome and genome sequencing (WES/WGS) is now routinely offered as a clinical test by growing number of laboratories. As part the design process each laboratory must determine performance characteristics platform, informatics pipeline. This report documents one such characterization WES/WGS.Whole whole was performed on multiple technical replicates five reference samples using Illumina HiSeq 2000/2500. The data processed with GATK-based analysis pipeline to evaluate: intra-run,...
Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare delivery, yet it is currently used in only small fraction of patients, principally for the diagnosis suspected Mendelian conditions targeting cancer treatments. Given burden illness our society, interest to ask how can be constructively integrated more broadly into routine practice betterment public health. In November 2014, 46 experts...
"Next generation" data acquisition technologies are allowing scientists to collect exponentially more at a lower cost. These trends broadly impacting many scientific fields, including genomics, astronomy, and neuroscience. We can attack the problem caused by exponential growth applying horizontally scalable techniques from current analytics systems accelerate processing pipelines.
Personalized therapy provides the best outcome of cancer care and its implementation in clinic has been greatly facilitated by recent convergence enormous progress basic research, rapid advancement new tumor profiling technologies, an expanding compendium targeted therapeutics.
Chronically implanted electrode arrays have enabled a broad range of advances in basic electrophysiology and neural prosthetics. Those successes motivate new experiments, particularly, the development prototype implantable prosthetic processors for continuous use freely behaving subjects, both monkeys humans. However, traditional experimental techniques require subject to be restrained, limiting types duration experiments. In this paper, we present dual-channel, battery-powered recording...
Achieving confidence in the causality of a disease locus is complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe combined approach to identify characterize genetic disorder leverages distantly related patients health system population-scale mapping. We utilize genomic uncover components distant pedigrees, absence recorded pedigree information, multi-ethnic Bio Me biobank New York City. By linking medical records, discover...
Cortically controlled prostheses are able to translate neural activity from the cerebral cortex into control signals for guiding computer cursors or prosthetic limbs. While both noninvasive and invasive electrode techniques can be used measure activity, latter promises considerably higher levels of performance therefore functionality patients. The process translating analog voltages recorded at tip prosthesis requires sophisticated signal acquisition processing techniques. In this article we...
Allergic rhinitis is a common disease whose genetic basis incompletely explained. We report an integrated genomic analysis of allergic rhinitis. performed genome wide association studies (GWAS) in 5633 ethnically diverse North American subjects. Next, we profiled gene expression disease-relevant tissue (peripheral blood CD4+ lymphocytes) collected from subjects who had been genotyped. then the GWAS and data using single nucleotide (eSNP), coexpression network, pathway approaches to identify...
Laboratory red blood cell (RBC) measurements are clinically important, heritable and differ among ethnic groups. To identify genetic variants that contribute to RBC phenotypes in African Americans (AAs), we conducted a genome-wide association study up ∼16 500 AAs. The alpha-globin locus on chromosome 16pter [lead SNP rs13335629 ITFG3 gene; P < 1E−13 for hemoglobin (Hgb), count, mean corpuscular volume (MCV), MCH MCHC] the G6PD Xq28 rs1050828; 1E − 13 Hgb, hematocrit (Hct), MCV, count...
Providing ostensibly healthy individuals with personal results from whole-genome sequencing could lead to improved health and well-being via enhanced disease risk prediction, prevention, diagnosis, but also poses practical ethical challenges. Understanding how react psychologically behaviourally will be key in assessing the potential utility of sequencing. We conducted an exploratory longitudinal cohort study which quantitative surveys in-depth qualitative interviews were before after...
Increasing numbers of healthy individuals are undergoing predispositional personal genome sequencing. Here we describe the design and early outcomes PeopleSeq Consortium, a multi-cohort collaboration sequencing projects, which is examining medical, behavioral, economic returning genomic information to individuals. Apparently adults who participated in four projects Consortium were included. Web-based surveys administered before after results disclosure, or some cases only disclosure. Surveys...
Reducing the arithmetic precision of a computation has real performance implications, including increased speed, decreased power consumption, and smaller memory footprint. For some architectures, e.g., GPUs, there can be such large difference that using reduced is effectively requirement. The trade-off accuracy will compromised. In this paper we describe proof assistant associated static analysis techniques for efficiently bounding numerical precision-related errors. programmer/compiler use...
Handwriting – one of the most important developments in human culture is also a methodological tool several scientific disciplines, importantly handwriting recognition methods, graphology and medical diagnostics. Previous studies have relied largely on analyses handwritten traces or kinematic analysis handwriting; whereas electromyographic (EMG) signals associated with received little attention. Here we show for first time, method which EMG generated by hand forearm muscles during activity...
In registration trials, triple therapy with telaprevir (TVR), pegylated interferon (Peg-IFN), and ribavirin (RBV) achieved sustained virological response (SVR) rates between 64% 75%, but the clinical effectiveness economic burdens of this treatment in real-world practice remain to be determined. Records 147 patients who initiated TVR-based at Mount Sinai Medical Center (May-December 2011) were reviewed. Direct medical costs for pretreatment, on-treatment, posttreatment care calculated using...
In this paper we propose the Merge framework, a general purpose programming model for heterogeneous multi-core systems. The framework replaces current ad hoc approaches to parallel on platforms with rigorous, library-based methodology that can automatically distribute computation across cores achieve increased energy and performance efficiency. provides (1) predicate dispatch-based library system managing invoking function variants multiple architectures; (2) high-level, library-oriented...
Abstract Motivation: Recent advances in flow cytometry enable simultaneous single-cell measurement of 30+ surface and intracellular proteins. CytoSPADE is a high-performance implementation an interface for the Spanning-tree Progression Analysis Density-normalized Events algorithm tree-based analysis visualization this high-dimensional data. Availability: Source code binaries are freely available at http://cytospade.org via Bioconductor version 2.10 onwards Linux, OSX Windows. implemented R,...
Novel, single-nucleotide mutations were identified in the mitochondrial methionyl amino-acyl tRNA synthetase gene (MARS2) via whole exome sequencing two affected siblings with developmental delay, poor growth, and sensorineural hearing loss.We show that compound heterozygous c.550C>T:p.Gln 184* c.424C>T:p.Arg142Trp MARS2 lead to decreased protein levels patient lymphoblasts. Analysis of respiratory complex enzyme activities fibroblasts revealed I IV activities. Immunoblotting fibroblast...