The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling
in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied …

Objective To describe a new spinocerebellar ataxia (SCA48) characterized by early cerebellar
cognitive-affective syndrome (CCAS) and late-onset SCA. Methods This is a descriptive …

Objective— Stimulation of monocytes with P-selectin induces the synthesis of an array of
mediators of inflammation, as well as the expression of tissue factor (TF), the main initiator of …

In the late 19th century, formalin fixation with paraffin-embedding (FFPE) of tissues was
developed as a fixation and conservation method and is still used to this day in routine clinical …

Next generation sequencing panels have been developed for hereditary cancer, although
there is some debate about their cost-effectiveness compared to exome sequencing. The …

Germ line predisposition in acute myeloid leukemia (AML) has gained attention in recent
years because of a nonnegligible frequency and an impact on management of patients and …

Background Modern horses represent heterogeneous populations specifically selected for
appearance and performance. Genomic regions under high selective pressure show …

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of
patients with rare diseases. However, the cost and efforts required for reanalysis prevent its …

Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays
thanks to the wide adoption of next‐generation sequencing. However, many cases remain …

Many patients experiencing a rare disease remain undiagnosed even after genomic testing.
Reanalysis of existing genomic data has shown to increase diagnostic yield, although there …