WES-based screening of 7,000 newborns: A pilot study in Russia.

The effective implementation of whole-exome sequencing- and whole-genome sequencing-based diagnostics in the management of children affected with genetic diseases and the rapid decrease in the cost of next-generation sequencing (NGS) enables the expansion of this method to newborn genetic screening programs. Such NGS-based screening greatly increases the number of diseases that can be detected compared to conventional newborn screening, as the latter is aimed at early detection of a limited number of inborn diseases. Moreover, genetic testing provides new possibilities for family members of the proband, as many variants responsible for adult-onset conditions are inherited from the parents.

Alterations in 5hmC level and genomic distribution in aging-related epigenetic drift in human adipose stem cells.

To clarify mechanisms affecting the level and distribution of 5-hydroxymethylcytosine (5hmC) during aging. We examined levels and genomic distribution of 5hmC along with the expression of ten-eleven translocation methylcytosine dioxygenases (TETs) in adipose stem cells in young and age-advanced individuals. 5hmC levels were higher in adipose stem cells of age-advanced than young individuals (p = 0.

Glucocorticoid receptor (NR3C1) gene polymorphisms are associated with age and blood parameters in Polish Caucasian nonagenarians and centenarians.

Introduction: Polymorphism of the glucocorticoid receptor gene (NR3C1) may modify protein abundance or function and therefore disturb human homeostasis.

Methods: Variant frequencies of the three NR3C1 polymorphisms, rs2963154, rs10515522 and rs2918418, selected in silico as associated with longevity, was analyzed in 552 DNA samples from 95 to 106-year-old individuals and in 284 samples of cord blood DNA from newborns.

Results: Frequencies of the TT genotypes of rs2963154 and rs10515522, and of the rs291841 CC genotype, were higher in the long-lived study subjects (p = 0.