Mark Chaisson, Assistant Professor in Quantitative and Computational Biology at USC
00:00 Structural variation paramount
11:05 Quality over quantity
16:06 The benchmark study
19:23 What is Circular Consensus Sequencing?
22:50 What would you call this new phase of genomics?
29:21 How will sequencing tools evolve?
31:05 New lab—what will be your thang?
38:30 What do you tell a newcomer to the field?
If you’re not on the long read sequencing train, you’re not landing in the world of genomics.
A new paper out begins, "Structural variants contribute greater diversity at the nucleotide level between two human genomes than another form of genetic variation.”
If arrays and short read sequencing lead to the discover of many point mutations, or SNPs, which no doubt advanced genomic science a long ways, long read sequencing is now in its heyday with the contribution of structural variation detection. And according to the aforementioned paper, said structural variation is no small matter.
Mark Chaisson is an Assistant Professor in Quantitative and Computational Biology at USC. He cut his computational chops in the lab of Evan Eichler and is now etching his own name into the genomic literature. We discuss two such papers today.