The monogenic disease is also called Mendelian disease, which results from the modifications in a single gene. They are inherited according to Mendel’s Laws; the mutation can be inherited from parents or spontaneous where there is no previous family history and in both cases can be passed to the next generation.
Over 5,000 kinds of diseases in 10 human body systems in the targeted panel.
Exon genomes of more than 20,000 genes in the human genome can be detected at one time, divided into individual and family trios of the proband (proband and their parents).
The BGI-Xome™ Express service makes use of BGI’s automated variant analysis pipeline, allowing delivery of results in as quick as 15 working days. Suitable for hospital or institute with genetic analysis capability.
Whole genome sequencing (WGS) technology detects all the DNA in the genome of the subject, and the detection area is about 100 times larger than the whole exome.
The samples of the proband and the parents of the proband in the all-foreign Trio project were all subjected to all-foreign sequencing and association analysis.
BGI had completed the sequencing of more than 20,000 cases of whole exons, published 205 papers related to a single disease in international journals, accumulated rich experience.
Sequencing, interpretation, reporting, and other links, with highly standardised operational procedures and management specifications.
Powerful information analysis, interpretation, and genetic consulting team, to provide you professional services.
