Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs

Knowledge on the genetic epidemiology of disorders in the dog population has implications for both veterinary medicine and sustainable breeding. Limited data on frequencies of genetic disease variants across breeds exists, and the disease heritage of mixed breed dogs remains poorly explored to date. Advances in genetic screening technologies now enable comprehensive investigations of the canine disease heritage, and generate health-related big data that can be turned into action. We pursued population screening of genetic variants implicated in Mendelian disorders in the largest canine study sample examined to date by examining around 83,000 mixed breed and 18,000 purebred dogs representing 330 breeds for 152 known variants using a custom-designed beadchip microarray. We further announce the creation of MyBreedData (www.mybreeddata.com), an online updated inherited disorder prevalence resource with its foundation in the generated data. We identified the most prevalent, and rare, disea...犬群体遗传病的遗传流行病学研究成果，对兽医学与可持续犬只繁育均具有重要参考价值。目前各犬品种间遗传病变异频率的相关数据较为匮乏，且混种犬的疾病遗传特征迄今仍未得到充分探究。当前基因筛查技术的进步，使得全面探究犬类疾病遗传背景成为可能，并可生成可转化为实际应用的健康相关大数据。 本研究针对与孟德尔遗传病（Mendelian disorders）相关的遗传变异开展群体筛查，所用研究样本为迄今规模最大的犬类研究样本：共计覆盖330个犬品种的约83000只混种犬与18000只纯种犬，并采用定制化微珠芯片微阵列（custom-designed beadchip microarray）完成152种已知遗传变异的检测。本研究还发布了基于本次研究生成数据搭建的在线遗传性疾病患病率资源库MyBreedData（www.mybreeddata.com），该平台支持数据实时更新。 本研究已鉴定出最为常见及罕见的疾病...