This is probably the most important message when analysis sequencing data. We frequently don't think about it but limitations are real and can lead to incorrect reporting & missing a mutation.
#eshg2026
Over 200 episignatures are known, and they can be used as biomarkers to indicate an associated syndrome.
#eshg2026
One gene can produce multiple episignatures, frequently with distinct phenotypes.
#eshg2026
Moving on to the last talk by M. Alders, who will present on mutations nearly missed with episignatures.
#eshg2026
Next talk by M. Spielmann talking about mutations in the regulatory regions. #eshg2026
Frameshift mutations in the last exon can cause a very different phenotype than mutations in other exons.
#eshg2026
Frequent variants can still be causative. And poor sequencing quality can lead to discarding of a variant that matters.
#eshg2026
And episignatures can be also overlapping. #eshg2026
When mutation is non-coding, look for gene that can be regulated by sequence in the non-coding region. But something else can be there - here it was non-coding RNA 😁.
#eshg2026
Do not try making a very big mouse at home! 😂
Making mouse models can be tricky; you need to target the right region.
#eshg2026
