Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

Highlights•Machine learning increasingly important for NGS.•Deep learning can improve
many NGS applications.•New AI techniques vital for life sciences.Next-generation …

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:
2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two …

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition
syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations …

Mutational analysis guides therapeutic decision making in patients with advanced‐stage
gastrointestinal stromal tumors (GISTs). We evaluated three targeted next‐generation …

Abstract Background Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor
predisposition syndrome that targets the peripheral nervous system. It is caused by …

Pre-mRNA splicing, an essential step in eukaryotic gene expression, relies on recognition of
short sequences on the primary transcript intron ends and takes place along transcription by …

Abstract Neurofibromatosis Type 1 (NF1) is caused by mutations of the NF1 gene. The aim
of this study was to identify the genetic causes underlying the disease, attempt possible …

The endometrium is unique as an accessible anatomic location that can be repeatedly
biopsied and where diagnostic biopsies do not extirpate neoplastic lesions. We exploited …

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease
associated with morbidity and mortality at any age. As studies in recent decades have …