Transcriptomics

Track 7: Genome Sequencing

Genome sequencing (GS) covers the entire genome, including non-coding regions. Compared to ES, GS is generally PCR-free in the library preparation step, therefore is more uniform in its coverage and is better able to detect larger deletions or duplications (up to about 2 kb). The read depth for GS is lower (30–50×), so it is less susceptible to mosaicism. GS is also able to detect structural variations as well as repeated tandem expansions, if the appropriate software is used. Generally, the diagnostic rate of GS over ES is around 10-15% (Palmer et al., 2021), mainly due to the detection of structural variants and larger deletions and duplications.

Due to the large amount of variation in DNA sequences detectable by GS, data analysis and data storage are more difficult. Non-coding regions are also generally more variable than exon regions, complicating the difficulty. For this reason, it is even more important to include parental samples as comparators in GS.