Background Understanding the cancer genome is seen as a key step in improving outcomes
for cancer patients. Genomic assays are emerging as a possible avenue to personalised …

Background Matched sequencing of both tumor and normal tissue is routinely used to
classify variants of uncertain significance (VUS) into somatic vs. germline. However, assays …

Chordomas are rare bone tumors with few therapeutic options. Here we show, using whole-
exome and genome sequencing within a precision oncology program, that advanced …

Genomic rearrangements arising during polyploidization are an important source of genetic
and phenotypic variation in the recent allopolyploid crop Brassica napus. Exchanges among …

Adrenocortical cancer (ACC) is a rare cancer with poor prognosis and high mortality due to
metastatic disease. All reported genetic alterations have been in primary ACC, and it is …

Polyploidization has played a major role in crop plant evolution, leading to advantageous
traits that have been selected by humans. Here, we describe restructuring patterns in the …

High resolution microarrays and second-generation sequencing platforms are powerful tools
to investigate genome-wide alterations in DNA copy number, methylation, and gene …

Microarray data is subject to noise and systematic variation that negatively affects the
resolution of copy number analysis. We describe Rawcopy, an R package for processing of …

Haplotype‐based noninvasive prenatal diagnosis (NIPD) is applicable for various recessive
single‐gene disorders in proband families. However, a comprehensive exploration of critical …

Glioblastoma, the most common and aggressive adult brain tumor, is characterized by
extreme phenotypic diversity and treatment failure. Through fluorescence-guided resection …