Precision medicine needs pioneering clinical bioinformaticians

2018-12-17T16:17:43+01:0011 outubro , 2018|

Success in precision medicine depends on accessing high-quality genetic and molecular data from large, well-annotated patient cohorts that couple biological samples to comprehensive clinical data, which in conjunction can lead to effective therapies. From such a scenario emerges the need for a new professional profile, an expert bioinformatician with training in clinical areas who can [...]

Genetics applied to clinical practice in neurodevelopmental disorders

2018-12-17T16:25:00+01:0017 setembro , 2018|

The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost- effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray studies display greater diagnostic power than conventional [...]