Challenges in molecular diagnosis of multiple endocrine neoplasia.

Multiple endocrine neoplasia (MEN) is a group of rare genetic diseases characterized by the occurrence of multiple tumors of the endocrine system in the same patient. The first MEN described was MEN1, followed by MEN2A, and MEN2B. The identification of the genes responsible for these syndromes led to the introduction of family genetic screening programs.

Deciphering the Presentation and Etiologies of Hypophysitis Highlights the Need for Repeated Systematical Investigation.

Aims: Hypophysitis is defined as an inflammation of the pituitary gland and/or infundibulum. Our aim was to characterize the initial course and evolution of patients with hypophysitis according to the different etiologies.

Patients And Methods: Retrospective observational study conducted in a universitary referral hospital center.

A harmonized public resource of deeply sequenced diverse human genomes.

Underrepresented populations are often excluded from genomic studies owing in part to a lack of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human Genome Diversity Project (HGDP), which have recently been sequenced to high coverage, are valuable genomic resources because of the global diversity they capture and their open data sharing policies. Here, we harmonized a high-quality set of 4094 whole genomes from 80 populations in the HGDP and 1kGP with data from the Genome Aggregation Database (gnomAD) and identified over 153 million high-quality SNVs, indels, and SVs.