Nicole A. Deflaux

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Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC).(More)
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and(More)
22 Large scale genomic sequencing is now widely used to decipher questions in diverse realms 23 such as biological function, human diseases, evolution, ecosystems, and agriculture. With the 24 quantity and diversity these data harbor, a robust and scalable data handling and analysis 25 solution is desired. Here we present interactive analytics using public(More)
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