Evaluating the strength of genetic results: Risks and responsibilities
Autoři:
Gregory S. Barsh aff001; Gregory M. Cooper aff001; Gregory P. Copenhaver aff003; Giorgio Sirugo aff004; Hua Tang aff002; Scott M. Williams aff005
Působiště autorů:
HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States of America
aff001; Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America
aff002; Department of Biology and the Integrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America
aff003; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America
aff004; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, United States of America
aff005
Vyšlo v časopise:
Evaluating the strength of genetic results: Risks and responsibilities. PLoS Genet 15(10): e32767. doi:10.1371/journal.pgen.1008437
Kategorie:
Editorial
doi:
https://doi.org/10.1371/journal.pgen.1008437
Zdroje
1. The PLOS Genetics Editors (2019) Expression of Concern: Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease. PLoS Genet 15(10): e1008436. doi: 10.1371/journal.pgen.1008436
2. Vilariño-Güell C, Zimprich A, Martinelli-Boneschi F, Herculano B, Wang Z, Matesanz F, et al. (2019) Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease. PLoS Genet 15(6): e1008180. https://doi.org/10.1371/journal.pgen.1008180 31170158
3. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster,et al. (2015) Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics In Medicine 17(5):405–24. doi: 10.1038/gim.2015.30 25741868
4. Barsh G. S., Copenhaver G. P., Gibson G., & Williams S. M. (2012). Guidelines for genome-wide association studies. PLoS Genet, 8(7), e1002812. doi: 10.1371/journal.pgen.1002812 22792080
5. MacArthur D. G., Manolio T. A., Dimmock D. P., Rehm H. L., Shendure J., Abecasis G. R. et al. (2014). Guidelines for investigating causality of sequence variants in human disease. Nature, 508(7497), 469–476. doi: 10.1038/nature13127 24759409
6. Williams SM, Haines JL. (2011). Correcting away the hidden heritability. Ann Hum Genet, 75(3), 348–350. doi: 10.1111/j.1469-1809.2011.00640.x 21488852
7. He Z., Xu B., Buxbaum J., & Ionita-Laza I. (2019). A genome-wide scan statistic framework for whole-genome sequence data analysis. Nat Commun, 10(1), 3018. doi: 10.1038/s41467-019-11023-0 31289270
8. Werling D. M., Brand H., An J. Y., Stone M. R., Zhu L., Glessner J. T. et al. (2018). An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat Genet, 50(5), 727–736. doi: 10.1038/s41588-018-0107-y 29700473
9. Tilghman J. M., Ling A. Y., Turner T. N., Sosa M. X., Krumm N., Chatterjee S. et al. (2019). Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease. N Engl J Med, 380(15), 1421–1432. doi: 10.1056/NEJMoa1706594 30970187
10. Li A. H., Hanchard N. A., Furthner D., Fernbach S., Azamian M., Nicosia A. et al. (2017). Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med, 9(1), 95. doi: 10.1186/s13073-017-0482-5 29089047
Štítky
Genetika Reprodukční medicínaČlánek vyšel v časopise
PLOS Genetics
2019 Číslo 10
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- Intrauterinní inseminace a její úspěšnost
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