domingo, 28 de enero de 2024

Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening G Nicolas et al, Genetics in Med, January 24, 2024

https://phgkb.cdc.gov/PHGKB/phgHome.action?action=archive&date=01/25/2024 From the abstract: "We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients. We built a framework for risk variant interpretation and risk gradation and assessed the detection rates among early-onset AD (EOAD, age of onset (AOO) =65 years, n=608) depending on AOO and pedigree structure and late-onset AD (LOAD, 66

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