Advances in next generation sequencing have allowed for rapid and economical germline
and tumor genomic profiling. Targeted therapies based on molecular tumor profiling are now …

Epithelial ovarian cancer (EOC) patients are generally diagnosed at an advanced stage,
usually relapse after initial treatments, which include debulking surgery and adjuvant …

According to a rough estimate, one in fifteen people worldwide is affected by a rare disease.
Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare …

About 6000 to 7000 different rare disorders with suspected genetic etiologies have been
described and almost 4500 causative gene (s) have been identified. The advent of next …

Purpose Artificial intelligence (AI) and variant prioritization tools for genomic variant analysis
are being rapidly developed for use in clinical diagnostic testing. However, their clinical …

Genetics is a cornerstone of molecular biology, and there have been significant
developments in genotyping technologies during the last decades. Genotyping can be used …

Abstract Treatment-resistant depression (TRD) is a severe form of major depressive disorder
(MDD) with substantial public health impact and poor treatment outcome. Treatment …

Chorea is defined by the presence of abnormal, involuntary, continuous, random
movements that results from a number of autoimmune, hereditary, vascular, metabolic, drug …

Next generation sequencing technologies (NGS) have been critical in characterizing the
genomic landscape and untangling the genetic heterogeneity of human cancer. Since its …

The pathogenesis of idiopathic and heritable forms of pulmonary arterial hypertension is still
not completely understood, even though several causative genes have been proposed, so …