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 …

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 …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …

The All of Us Research Program seeks to engage at least one million diverse participants to
advance precision medicine and improve human health. We describe here the cloud-based …

Although molecular prognostics in breast cancer are among the most successful examples
of translating genomic analysis to clinical applications, optimal approaches to breast cancer …

Image-based profiling has emerged as a powerful technology for various steps in basic
biological and pharmaceutical discovery, but the community has lacked a large, public reference …

Recently, large scale genomic projects such as All of Us and the UK Biobank have
introduced a new research paradigm where data are stored centrally in cloud-based Trusted …

The ISB Cancer Genomics Cloud (ISB-CGC) is one of three pilot projects funded by the
National Cancer Institute to explore new approaches to computing on large cancer datasets in a …

Fully understanding the genetic factors involved in Autism Spectrum Disorder (ASD) requires
whole-genome sequencing (WGS), which theoretically allows the detection of all types of …

Motivation Large scale genomic sequencing is now widely used to decipher questions in
diverse realms such as biological function, human diseases, evolution, ecosystems, and …