Disease variants in genomes of 44 centenarians
نویسندگان
چکیده
منابع مشابه
Disease variants in genomes of 44 centenarians
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 30× coverage on the Illumina HiSeq 2000 and single-nucleotide variants were called with the genome analysis toolkit (GATK). We identified 130 coding variants that wer...
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We compared coding region variants of 53 cognitively healthy centenarians and 45 patients with Alzheimer's disease (AD), all of Ashkenazi Jewish (AJ) ancestry. Despite the small sample size, the known AD risk variant APOE4 reached genome-wide significance, indicating the advantage of utilizing 'super-controls'. We restricted our subsequent analysis to rare variants observed at most once in the ...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2014
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.86