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Disease Variants In Genomes Of 44 Centenarians, Y. Freudenberg-Hua, J. Freudenberg, D. Oschwald, E. Christen, J. Koppel, B. Greenwald, R. B. Darnell, S. Germer, G. Atzmon, P. Davies, +5 Additional Authors

Journal Articles

To identify previously reported disease mutations that are compatible with extraordinary longevity, we screened the coding regions of the genomes of 44 Ashkenazi Jewish centenarians. Individual genome sequences were generated with 30x coverage on the Illumina HiSeq 2000 and single-nucleotide variants were called with the genome analysis toolkit (GATK). We identified 130 coding variants that were annotated as "pathogenic" or "likely pathogenic" based on the ClinVar database and that are infrequent in the general population. These variants were previously reported to cause a wide range of degenerative, neoplastic, and cardiac diseases with autosomal dominant, autosomal recessive, and X-linked inheritance. Several …