Genome-wide detection of tandem DNA repeats that are expanded in autism

• Published in: Nature (London) Vol. 586; no. 7827; pp. 80 - 86
• Main Authors: Trost, Brett, Engchuan, Worrawat, Nguyen, Charlotte M., Thiruvahindrapuram, Bhooma, Dolzhenko, Egor, Backstrom, Ian, Mirceta, Mila, Mojarad, Bahareh A., Yin, Yue, Dov, Alona, Chandrakumar, Induja, Prasolava, Tanya, Shum, Natalie, Hamdan, Omar, Pellecchia, Giovanna, Howe, Jennifer L., Whitney, Joseph, Klee, Eric W., Baheti, Saurabh, Amaral, David G., Anagnostou, Evdokia, Elsabbagh, Mayada, Fernandez, Bridget A., Hoang, Ny, Lewis, M. E. Suzanne, Liu, Xudong, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Glazer, David, Hartley, Dean, Stewart, A. Keith, Eberle, Michael A., Sato, Nozomu, Pearson, Christopher E., Scherer, Stephen W., Yuen, Ryan K. C.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.10.2020; Nature Publishing Group
• Subjects: 45/22; 45/23; 45/29; 45/77; 631/208/212/2301; 631/208/457/649; 631/378/2583; 692/699/375/366/1373; Autism; Autism Spectrum Disorder - genetics; Cardiovascular system; Complexity; Cytogenetics; Deoxyribonucleic acid; DNA; DNA Repeat Expansion - genetics; Etiology; Exons; Female; Fibroblast Growth Factors - genetics; Fragile sites; Frataxin; Genes; Genetic Predisposition to Disease; Genetics; Genome, Human - genetics; Genomes; Genomics; Heterogeneity; Humanities and Social Sciences; Humans; Intelligence - genetics; Iron-Binding Proteins - genetics; Male; multidisciplinary; Muscles; Myotonin-Protein Kinase - genetics; Nervous system; Nucleotide Motifs; Nucleotide sequence; Polymorphism; Polymorphism, Genetic; Population control; Science; Science (multidisciplinary); Splice junctions; Tandem Repeat Sequences - genetics

Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded, these tandem DNA repeats have been associated with more than 40 monogenic disorders 1 . Their involvement in disorders with complex genetics is largely unknown, as is the extent of their heterogeneity. Here we inve...