Nicole Deflaux
A5067382528- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Genetics, Bioinformatics, and Biomedical Research
- Genomic variations and chromosomal abnormalities
- Bioinformatics and Genomic Networks
- Autism Spectrum Disorder Research
- Scientific Computing and Data Management
- Genetics and Neurodevelopmental Disorders
- Cancer Genomics and Diagnostics
- Single-cell and spatial transcriptomics
- Research Data Management Practices
- Epigenetics and DNA Methylation
- Data-Driven Disease Surveillance
- Opinion Dynamics and Social Influence
- Data Quality and Management
- Cardiovascular Health and Risk Factors
- Human Mobility and Location-Based Analysis
- Nutrition, Genetics, and Disease
- Cell Image Analysis Techniques
- Complex Network Analysis Techniques
- Health, Environment, Cognitive Aging
- 3D Printing in Biomedical Research
- Genetic Syndromes and Imprinting
- Nutritional Studies and Diet
Moog (United States)
2017
Google (United States)
2014-2017
Broad Institute
2015
Sage Bionetworks
2013
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation DNA sequence changes. Here we describe aggregation analysis high-quality exome (protein-coding region) 60,706 individuals diverse ancestries generated as part Exome Aggregation Consortium (ExAC). This catalogue diversity contains an average one variant every eight bases exome, provides direct evidence presence widespread mutational recurrence. We have used this to calculate...
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Abstract Image-based profiling has emerged as a powerful technology for various steps in basic biological and pharmaceutical discovery, but the community lacked large, public reference set of data from chemical genetic perturbations. Here we present generated by Joint Undertaking Morphological Profiling (JUMP)-Cell Painting Consortium, collaboration between 10 companies, six supporting two non-profit partners. When completed, dataset will contain images profiles Cell assay over 116,750...
Summary Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation DNA sequence changes. Here we describe aggregation analysis high-quality exome (protein-coding region) 60,706 individuals diverse ethnicities generated as part Exome Aggregation Consortium (ExAC). The resulting catalogue diversity contains an average one variant every eight bases exome, provides direct evidence presence widespread mutational recurrence. We show that...
Although molecular prognostics in breast cancer are among the most successful examples of translating genomic analysis to clinical applications, optimal approaches risk prediction remain controversial. The Sage Bionetworks-DREAM Breast Cancer Prognosis Challenge (BCC) is a crowdsourced research study for prognostic modeling using genome-scale data. BCC provided community data analysts with common platform access and blinded evaluation model accuracy predicting survival on basis gene...
Abstract The ISB Cancer Genomics Cloud (ISB-CGC) is one of three pilot projects funded by the National Institute to explore new approaches computing on large cancer datasets in a cloud environment. With focus Data as Service, ISB-CGC offers multiple avenues for accessing and analyzing Genome Atlas, TARGET, other important references such GENCODE COSMIC using Google Platform. open approach allows researchers choose best suited task at hand: from terabytes data complex workflows developing...
Abstract Importance The All of Us Research Program hypothesizes that accruing one million or more diverse participants engaged in a longitudinal research cohort will advance precision medicine and ultimately improve human health. Launched nationally 2018, to date has recruited than 345,000 participants. plans open beta access researchers May 2020. Objective To demonstrate the quality, utility, diversity Program’s initial data release launch cloud-based analysis platform, Researcher...
Large scale genomic sequencing is now widely used to decipher questions in diverse realms such as biological function, human diseases, evolution, ecosystems, and agriculture. With the quantity diversity these data harbor, a robust scalable handling analysis solution desired.
<div>Abstract<p>The ISB Cancer Genomics Cloud (ISB-CGC) is one of three pilot projects funded by the National Institute to explore new approaches computing on large cancer datasets in a cloud environment. With focus Data as Service, ISB-CGC offers multiple avenues for accessing and analyzing The Genome Atlas, TARGET, other important references such GENCODE COSMIC using Google Platform. open approach allows researchers choose best suited task at hand: from terabytes data complex...
<p>ISB-CGC tutorial.</p>
<p>ISB-CGC tutorial.</p>
<div>Abstract<p>The ISB Cancer Genomics Cloud (ISB-CGC) is one of three pilot projects funded by the National Institute to explore new approaches computing on large cancer datasets in a cloud environment. With focus Data as Service, ISB-CGC offers multiple avenues for accessing and analyzing The Genome Atlas, TARGET, other important references such GENCODE COSMIC using Google Platform. open approach allows researchers choose best suited task at hand: from terabytes data complex...
In this work a micro-scale generative model for simulating context-driven information cascades in online social networks is presented and analyzed. Activity on are explained by the dynamic variation spectral radius of sociologically derived local influence matrix. A stochastic discrete-event agent-based simulator working with synthesized graph topologies, that emulates people's behavior used conjunction time-varying models to generate macro-level activity cascades.
Abstract Fully understanding the genetic factors involved in Autism Spectrum Disorder (ASD) requires whole-genome sequencing (WGS), which theoretically allows detection of all types variants. With aim generating an unprecedented resource for resolving genomic architecture underlying ASD, we analyzed genome sequences and phenotypic data from 5,100 individuals with ASD 6,212 additional parents siblings (total n=11,312) Speaks MSSNG Project, as well other WGS cohorts. autism phenotyping were...
Abstract Large scale genomic sequencing is now widely used to decipher questions in diverse realms such as biological function, human diseases, evolution, ecosystems, and agriculture. With the quantity diversity these data harbor, a robust scalable handling analysis solution desired. Here we present interactive analytics using public cloud infrastructure distributed computing database Dremel developed according standards of Global Alliance for Genomics Health, perform information...
Abstract The rapid growth of genomic data has led to a new research paradigm where are stored centrally in Trusted Research Environments (TREs) such as the All Us Researcher Workbench (AoU RW) and UK Biobank Analysis Platform (RAP). To characterize advantages drawbacks different TRE attributes facilitating cross-cohort analysis, we conducted Genome-Wide Association Study (GWAS) standard lipid measures on UKB RAP AoU RW using two approaches: meta-analysis pooled analysis. We curated...