FIRST-TIER NEXT-GENERATION SEQUENCING FOR NEWBORN SCREENING: AN IMPORTANT ROLE FOR BIOCHEMICAL SECOND-TIER TESTING

First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing

There is discussion of expanding newborn screening (NBS) through the use of genomic sequence data; yet, challenges remain in the interpretation of DNA variants.Population-level DNA variant databases are available, and it is possible to estimate the number of newborns who would be flagged as having a risk for a genetic disease (including rare varian

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Changes in immunity characteristics in patients with small (T1) choroidal melanoma after a course of 810-nm diode laser TTT delivered using the developed methodology

Background: Immune response is an important factor for efficacy of choroidal melanoma (CM) treatment.Adequate uveal melanoma (UM) organ-saving treatment and treatment efficacy monitoring requires determining the interaction pattern between immune and Wheel Axle tumor cells.Purpose: To investigate changes in immune characteristics in patients with s

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