Evaluating the strength of genetic results: Risks and responsibilities

English version

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