Exome sequencing is a powerful method for detecting rare variants which underlie medical conditions that have historically been very challenging to identify in patients.
Next-generation sequencing technologies mean we can now hunt down rare variants without association studies or large population studies.
In this demonstration video, the OGT NGS browser is used to analyse trio data from the 1000 Genomes Project, showing how it is possible to locate potentially deleterious variants that are de-novo mutations, recessively inherited or compound heterozygotes in the proband.
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