Purpose Germline mutations in DNA damage repair (DDR) genes are identified in a significant
proportion of patients with metastatic prostate cancer, but the clinical implications of these …

We describe a novel computational method for genotyping repeats using sequence graphs.
This method addresses the long-standing need to accurately genotype medically important …

There is epidemiological evidence that patients with certain Central Nervous System (CNS)
disorders have a lower than expected probability of developing some types of Cancer. We …

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia
(FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data …

Epidemiological studies indicate that patients suffering from Alzheimer’s disease have a
lower risk of developing lung cancer, and suggest a higher risk of developing glioblastoma. …

Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative
condition characterized by pathological intranuclear eosinophilic inclusions. A CGG …

A fundamental problem in rare-disease diagnostics is the lack of consensus as to which
genes have sufficient evidence to attribute causation. To address this issue, we have created …

Background Epidemiological and clinical evidence points to cancer as a comorbidity in
people with autism spectrum disorders (ASD). A significant overlap of genes and biological …

Objective Germline loss‐of‐function mutations in DEPDC5, and in its binding partners (NPRL2/3)
of the mammalian target of rapamycin (mTOR) repressor GATOR1 complex, cause …

CAG repeat expansions in exon 1 of the AR gene on the X chromosome cause spinal and
bulbar muscular atrophy, a male-specific progressive neuromuscular disorder associated with …