Whole-exome sequencing of a pedigree with lumbar disc degeneration

Accumulating evidence indicates that intervertebral disc degeneration (IDD, OMIM 603932) is a multifaceted disease, amongst which genetic factors contribute more than environmental factors. Lumbar disc degeneration (LDD) is a subset of IDD. We have addressed the expression profiles of miRNAs (GSE19943, GSE63492) and lncRNAs (GSE56081) of human nucleus pulposus in LDD. Despite various gene polymorphysisms have been noted, the inherited mode of LDD has not been clarified so far. The development of next-generation sequencing and deep sequencing technology vitalizes genetic studies of LDD. Overwhelming evidence indicates that exome sequencing can be used to identify inherited recessive mutations in Mendelian disorders. We report the application of next-generation and deep sequencing technique for high-throughout profiling in a pedigree. In details, we performed whole-exome sequencing using blood samples from seven affected family members (3 generations) of a pedigree with lumbar disc degeneration.