Establishing accurate and large-scale genotype–phenotype correlations and predictions of
individual response to pharmacological treatments are two of the holy grails of Personalized …

Fused in sarcoma (FUS) mutations cause frontotemporal dementia (FTD) and motor neuron
disease (MND). Here, we describe a 43-year-old man with progressive behavioral and …

Amino acid variation at “rheostat” positions provides opportunity to modulate various aspects
of protein function–such as binding affinity or allosteric coupling–across a wide range …

Motivation High-throughput experiments are generating ever increasing amounts of various-
omics data, so shedding new light on the link between human disorders, their genetic …

Personalised oncology has long been the ideal when it comes to the management of
cancer. The ability to tailor screening, diagnosis, therapy and monitoring to an individual …

Precision medicine is the personalization of medicine to suit a specific group of people or
even an individual patient, based on genetic or molecular profiling. This can be done using …

Despite the advent of new high-throughput experimental methods and the incredible amount
of data they produce, it remains challenging to understand the link between inherited …

The present limitations in the pathogenicity prediction of BRCA1 and BRCA2 (BRCA1/2)
missense variants constitute an important problem with negative consequences for the …

We report that low level background splicing by normal genes can be used to predict the
likely effect of splicing mutations upon cryptic splice site activation and exon skipping, with …

For a variant to have a causal effect on an organism-level trait, there must be a chain of
causal events starting with the DNA-sequence, proceeding through one (or more often …