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Chunk #6 — Methods — Subjects and samples — DIAN and Knight-ADRC

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Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.
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Parietal lobe tissue of post-mortem brain was obtained with informed consent for research use and was approved by the review board of Washington University in St. Louis. RNA was extracted from frozen brain using Tissue Lyser LT and RNeasy Mini Kit (Qiagen, Hilden, Germany). RNA-seq paired-end reads with read lengths of 2 × 150 bp were generated using Illumina HiSeq 4000 with a mean coverage of 80 million reads per sample (Table 1; Additional file 1: Table S1). RNA-seq was generated for 19 brains from DIAN, 84 brains with LOAD and 16 non-demented controls from Knight-ADRC [33]. The AD brains selected from Knight-ADRC are enriched for carrier of variants in TREM2 (n = 20; Additional file 1: Table S1) and PLD3 (n = 33; Additional file 1: Table S1). The clinical status of participants was neuropathologically confirmed [35]. We identified three additional participants from the Knight-ADRC study with PSEN1 (A79V, I143T, S170F) mutations. Clinical Dementia Rating (CDR) scores were obtained during regular visits throughout the study before the subject’s decease [36]. A range of other pathological measurements were collected during