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 …

Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here, we
describe the genomic landscape of 496 PTCs. We observed a low frequency of somatic …

Major international projects are underway that are aimed at creating a comprehensive catalogue
of all the genes responsible for the initiation and progression of cancer 1 , 2 , 3 , 4 , 5 , 6 …

We describe the landscape of genomic alterations in cutaneous melanomas through DNA,
RNA, and protein-based analysis of 333 primary and/or metastatic melanomas from 331 …

Targeting genomic loci by massively parallel sequencing requires new methods to enrich
templates to be sequenced. We developed a capture method that uses biotinylated RNA 'baits' …

Prostate cancer is the second most common cause of male cancer deaths in the United
States. However, the full range of prostate cancer genomic alterations is incompletely …

Despite the ever-increasing output of Illumina sequencing data, loci with extreme base
compositions are often under-represented or absent. To evaluate sources of base-composition …

Melanoma is notable for its metastatic propensity, lethality in the advanced setting and
association with ultraviolet exposure early in life 1 . To obtain a comprehensive genomic view of …

RNA-seq, the application of next-generation sequencing to RNA, provides transcriptome-wide
characterization of cellular activity. Assessment of sequencing performance and library …

As researchers begin probing deep coverage sequencing data for increasingly rare
mutations and subclonal events, the fidelity of next generation sequencing (NGS) laboratory …