Bias towards large genes in autism
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Studies have demonstrated biases in gene length, gene mutability, and other factors that can drive gene set enrichment instead of a true biological signal.
“However, studies have demonstrated biases in gene length, gene mutability and other factors that can drive gene set enrichment instead of a true biological signal.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [184]
Longer genes are more likely to be implicated by CNVs and SNVs.
“For example, longer genes are more likely to be implicated by CNVs and SNVs87,184,185”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [184]
Cites
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · see citing works
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084 · see citing works
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734 · see citing works
De Novo Gene Disruptions in Children on the Autistic Spectrum
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446 · see citing works
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263 · see citing works
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
Abrahams, B. S., Arking, D. E., Campbell, D. B., Mefford, H. C., Morrow, E. M., Weiss, L. A., Menashe, I., Wadkins, T., Banerjee-Basu, S., & Packer, A. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-36 · Cited by 873 · see citing works
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712 · see citing works
Topoisomerases facilitate transcription of long genes linked to autism
King, I. F. G., Yandava, C., Mabb, A. M., Hsiao, J. S., Huang, H., Pearson, B. L., Calabrese, J. M., Starmer, J., Parker, J. S., Magnuson, T., et al. (2013) · Nature · doi:10.1038/nature12504 · Cited by 430 · see citing works
Ben‐David, E., Granot‐Hershkovitz, E., Monderer‐Rothkoff, G., Lerer, E., Levi, S., Yaari, M., Ebstein, R. P., Yirmiya, N., & Shifman, S. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr283 · Cited by 69 · see citing works
Self-citation
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Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Parikshak, N. N., Gandal, M. J., & Geschwind, D. H. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3934 · Cited by 430 · see citing works
- Authors
- Shohat, S., & Shifman, S.
- Affiliations
- Hebrew University of Jerusalem (IL)
- Corresponding author
- Shifman, Sagiv
- Venue
- Nature
- Published
- 2014-08-06
- Volume
- 512
- Issue
- 7512
- Pages
- E1-E2
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2054624682
- Cited by
- 18
- References
- 9
- Citations by year
- 2022: 2 · 2020: 1 · 2019: 2 · 2017: 3 · 2016: 4 · 2015: 4 · 2014: 2
- FWCI
- 2.41
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, copy number variation, candidate genes, gene expression, methodological bias
- MeSH terms
- Animals, Autistic Disorder, DNA Topoisomerases, Type I, Humans, Transcription Elongation, Genetic
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