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Nascent Transcript Writer: Jeff Calhoun Due to the reduced cost of next-generation sequencing and the demonstrated utility of genetic diagnoses, more and more individuals are having their genes, exomes, and even genomes sequenced in a clinical setting. This testing ranges widely from gene panels to identify cancer subtypes, to array Comparative Genomic Hybridization to identify... Read More

  Trainee Author: Raluca Nicoli, Pharm, PhD Postdoctoral Researcher National Human Genome Research Institute National Institutes of Health (Photo courtesy Nicoli) Nicoli E, et al. Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification. 2019 June 6;104(6)   This month’s Trainee Paper Spotlight article is a prime example... Read More

Trainee Author: Ajai K. Pathak Early Career Researcher Estonian Biocentre-Institute of Genomics University of Tartu (Photo courtesy Jüri Parik)   Pathak AK, et al.The Genetic Ancestry of Modern Indus Valley Populations from Northwest India. American Journal of Human Genetics. 2018 Dec 6;103(6) To fully capture the variation of the human genome it is important to... Read More

Trainee Author: Dr. Callie Kwartler Postdoctoral Fellow Milewicz Lab – University of Texas Health Science Center at Houston (Photo courtesy Kwartler) Kwartler CS, Gong L, Chen J, Wang S, Kulmacz R, Duan XY, Janda A, Huang J, Kamm KE, Stull JT, Guo D, Milewicz DM. Variants of Unknown Significance in Genes Associated with Heritable Thoracic... Read More