Broad and deep tumour genome sequencing has shed new light on tumour heterogeneity
and provided important insights into the evolution of metastases arising from different clones 1 …

… B) Tracking of evidence statements within CIViC over time with respective contributions of
internal (Washington University, 'WashU') and external (community) curation. C) Treemap with …

… (B) The number of potentially druggable genes among the 488 genes recurrently mutated
in at least 2.5% of tumors, grouped by druggable gene categories. Colored bars indicate the …

Efficient tools for data management and integration are essential for many aspects of high-throughput
biology. In particular, annotations of genes and human genetic variants are …

Massively parallel RNA sequencing (RNA-seq) has rapidly become the assay of choice for
interrogating RNA transcript abundance and diversity. This article provides a detailed …

… GATA3 mutations were present in 28–30% of Luminal B cases and less so in luminal A …
Luminal B tumors in MA12 (8–13%) suggests that ATM disruption is also a possible luminal B …

Cerebrospinal fluid (CSF) 42 amino acid species of amyloid beta (Aβ42) and tau levels are
strongly correlated with the presence of Alzheimer's disease (AD) neuropathology including …

… (b) Summary of the variants that passed manual review and were not identified in the
original TCGA analyses. (c) Summary of the variants that were validated in the 93 validation …

Abstract Interpretation of the clinical significance of genomic alterations remains the most
severe bottleneck preventing the realization of personalized medicine in cancer. We propose a …

In this work, we present the Genome Modeling System (GMS), an analysis information
management system capable of executing automated genome analysis pipelines at a massive …