Ion Ampliseq Exome Kit: rapid and simple method for Exome enrichment.
The human Exome represents approximately 1.5% of the human genome with more than 180,000 exons or 30 Megabases. This is defined as the set of functional sequences within the gene structure which is transcribed and are kept in the mature RNA, and then translated into amino acids by the cellular machinery that make up proteins.
According to current research, it is estimated there are between 7,000 and 15,000 rare monogenic diseases whose underlying genes are unknown. Of these, only 3,500 are associated with molecular alterations. In addition, recent estimates point to common diseases, such as intellectual disability, schizophrenia, and autism, among others, as a result of a likely smorgasbord of several rare monogenic diseases that are mostly unknown. The identification of the genes involved in these diseases represents the first step to understanding the medical condition, which represents a starting point for deepening of subsequent research, analysis and treatment. It is estimated that exome sequencing gathers up to 85% of the genetic mutations known as pathological implications. Therefore such analysis represents an opportunity for the identification of genes involved in rare and complex monogenic diseases.
Genetracer Biotech is capable of analyzing the Exome within hours and performing the allocation of variants in a single day, providing detailed customer report within 15 days. Confirmation of the variants identified by Sanger sequencing is done within two weeks from the issuance of the first report.
Genetracer is prepared to allow first-time customers a success-based free-pilot of its Exome service. Please contact us for more details.
Example of CCDS sequencing of more than 97% of the human Exome sequences:
92,884,406 Total Reads