References
- Dourlen P, Kilinc D, Malmanche N, et al. The new genetic landscape of Alzheimer's disease: from amyloid cascade to genetically driven synaptic failure hypothesis? Acta Neuropathol. 2019;138(2):221–236.
- Giri M, Zhang M, Lü Y. Genes associated with Alzheimer's disease: an overview and current status. Clin Interv Aging. 2016;11:665–681.
- Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 1991;349(6311):704–706.
- Murrell J, Farlow M, Ghetti B, et al. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science. 1991;254(5028):97–99.
- Campion D, Flaman JM, Brice A, et al. Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Hum Mol Genet. 1995;4(12):2373–2377.
- Chávez-Gutiérrez L, Bammens L, Benilova I, et al. The mechanism of γ-Secretase dysfunction in familial Alzheimer disease. Embo J. 2012;31(10):2261–2274.
- Lanoiselee HM, et al. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: a genetic screening study of familial and sporadic cases. PLoS Med. 2017;14:e1002270.
- Giau VV, Bagyinszky E, Youn YC, et al. PSEN1, and PSEN2 mutations in Asian patients with early-onset Alzheimer Disease. IJMS. 2019;20(19):4757.
- Giau VV, Bagyinszky E, Yang YS, et al. Genetic analyses of early-onset Alzheimer's disease using next generation sequencing. Sci Rep. 2019;9(1):8368.
- Jia L, Fu Y, Shen L, et al. PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease. Alzheimers Dement. 2020;16(1):178–191.
- FastQC. https://www.bioinformatics.babraham.ac.uk/projects/fastqc/.
- Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv:1303.3997v2 [q-bio.GN]. 2013.
- Li H, Handsaker B, Wysoker A, 1000 Genome Project Data Processing Subgroup, et al. The sequence alignment/map format and SAMtools. Bioinformatics. 2009;25(16):2078–2079.
- Van der Auwera GA, et al. From FastQ data to high confidence variant calls: the genome analysis toolkit best practices pipeline. Curr. Protoc. Bioinformatics. 2013;43:11.10.1–11.10.33.
- Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308–311.
- Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42(Database issue):D980–D985.
- McLaren W, Gil L, Hunt SE, et al. The Ensembl variant effect predictor. Genome Biol. 2016;17(1):122.
- Aligner C. https://www.codoncode.com/aligner/.
- Chene G, BA. Gender and incidence of dementia in the Framingham heart study from mid-adult life. Alzheimers Dement. 2015;11(2015):310–320.
- Dong J, Qin W, Wei C, et al. A novel PSEN1 K311R mutation discovered in Chinese families with late-onset Alzheimer's disease affects amyloid-β production and Tau phosphorylation. JAD. 2017;57(2):613–623.
- Alzforum mutation database. https://www.alzforum.org/mutations.
- Cuccaro ML, Carney RM, Zhang Y, et al. SORL1 mutations in early- and late-onset Alzheimer disease. Neurol Genet. 2016;2(6):e116.
- Holstege H, van der Lee SJ, Hulsman M, et. al. Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. Eur J Hum Genet. 2017;25(8):973–981.
- Campion D, Charbonnier C, Nicolas G. SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data. Acta Neuropathol. 2019;138(2):173–186.