August Yue Huang

ArticleOnline nowOpen access Affiliations & Notes 1Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA, USA 2Department of Pediatrics, Harvard Medical School, Boston, MA, USA 3Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA 4Bioinformatics and Integrative Genomics Program, Harvard Medical School, Boston, MA, USA 5Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea...

To examine the mutational burden of somatic variants in cancer driver genes in AD, we designed a hybrid capture gene panel covering 149 cancer driver genes with unique molecular identifier (UMI) barcoding (Table S1). We sequenced DNA from the prefrontal cortex (PFC) samples of 190 AD patients and 121 matched controls from the Religious Orders Study/Memory and Aging Project (ROSMAP) cohort at an average sequencing depth of >1,000× after UMI collapsing (Figures 1A, S1A, and S1B; Table S2).

Abstract Although mutations in many genes cause familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), most cases are sporadic (sALS and sFTD) with unclear etiology. Here we tested whether somatic mutations contribute to sALS and sFTD by deep targeted sequencing of 88 neurodegeneration-related genes in postmortem brain and spinal cord samples from 399 sporadic cases and 144 controls.