Moez Dawood (@MoezDawood) #ASHG22: Saturation genome editing for PALB2.
Want to test every SNV in haploid cells lines. Cell viability is the read out here and is turned into a functional score. Classically applied to BRCA1. Now applying to another breast/ovarian cancer gene.
Want to test every SNV in haploid cells lines. Cell viability is the read out here and is turned into a functional score. Classically applied to BRCA1. Now applying to another breast/ovarian cancer gene.
Moez Dawood (@MoezDawood) #ASHG22: 99% of PALB2 SNVs are considered VUS in ClinVar [seems really high -- but maybe expected when you have all]. Could be that there are only a few pathogenic variants here. SGE should be well suited here.
Moez Dawood (@MoezDawood) #ASHG22: 10.6k SNVs + 3.6k 3-base deletions in PALB2 tested.
Some missense variants in exon 2 seem to get worse (via scores) as the time course goes on but remain in between syn and nonsense dist. Suggest they are hypomorphic / incompletely penetrant?
Some missense variants in exon 2 seem to get worse (via scores) as the time course goes on but remain in between syn and nonsense dist. Suggest they are hypomorphic / incompletely penetrant?
Moez Dawood (@MoezDawood) #ASHG22: Comparing to other one-off functional assays for a few of the PALB2 variants. High correlation viewed as orthogonal validation.
Note: 10% missense SNVs in functional domains are functionally abnormal in SGE.
Note: 10% missense SNVs in functional domains are functionally abnormal in SGE.
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