Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis
Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis
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DOI：
10.1007/s00439-018-1915-y
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发表时间：
2018-09-01
期刊：
影响因子：
5.3
通讯作者：
Petrek, Martin
中科院分区：
文献类型：
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作者：
Kishore, Amit;Petersen, Britt-Sabina;Petrek, Martin
肺结节病的全基因组和候选基因研究强调了不同人群中的几种候选变异。然而，结节病功能性罕见变异的遗传基础仍需探索。为了鉴定结节病的功能性罕见变异，我们对来自 6 个家庭的 22 例结节病病例的外显子组进行了测序。使用连锁和高外显率方法对变异进行优先排序，并进行过滤以识别新颖和罕见的变异。使用基于基因本体论的基因-表型、基因-基因和蛋白质-蛋白质相互作用对已识别的变体进行功能网络和通路分析。筛选连锁 (n=1007-7640) 和高外显率 (n=11,432) 优先变体，以选择具有 (a) 报告等位基因频率的变体
Genome-wide and candidate gene studies for pulmonary sarcoidosis have highlighted several candidate variants among different populations. However, the genetic basis of functional rare variants in sarcoidosis still needs to be explored. To identify functional rare variants in sarcoidosis, we sequenced exomes of 22 sarcoidosis cases from six families. Variants were prioritized using linkage and high-penetrance approaches, and filtered to identify novel and rare variants. Functional networking and pathway analysis of identified variants was performed using gene ontology based gene-phenotype, gene-gene, and protein-protein interactions. The linkage (n=1007-7640) and high-penetrance (n=11,432) prioritized variants were filtered to select variants with (a) reported allele frequency