Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …

The integration of artificial intelligence (AI) into point-of-care (POC) biosensing has the
potential to revolutionize diagnostic methodologies by offering rapid, accurate, and …

Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

GM1 gangliosidosis is a rare lysosomal storage disorder associated with β‐galactosidase
enzyme deficiency. There are three types of GM1 gangliosidosis based on age of symptom …

Immunohematology laboratories are regularly facing transfusion issues due to serological
weaknesses. Altered (partial) RH antigens account for most of them. In some situations …

Hypobetalipoproteinemia is characterized by LDL-cholesterol and apolipoprotein B (apoB)
plasma levels below the fifth percentile for age and sex. Familial hypobetalipoproteinemia …

Background Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the
search for the cause of genetic diseases. Determination of such pathogenic variants from a …

Simple Summary Hereditary Breast and Ovarian Cancer syndrome (HBOC) is an inherited
trait that predisposes adults to an earlier onset of cancer than the general population. HBOC …

Variants which disrupt splicing are a frequent cause of rare disease that have been under-
ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing …

Background The adoption of whole-genome sequencing in genetic screens has facilitated
the detection of genetic variation in the intronic regions of genes, far from annotated splice …