Identification of missing variants by combining multiple analytic pipelines

BMC Bioinformatics

Table 1 Previously-published pathogenic and protective variants detected in known EOAD genes using the default and alternative approaches

Gene	Protein change	Publication	GnomeAD EUR non-Fin BAF	Called by default pipeline
APP	p.V717F	[25]	0	Yes
APP	p.I716T	[26]	0	No
APP	p.A673T	[27, 28]	0.0003632	No
PSEN1	p.A79V	[29, 30]	0.00002369	Yes
PSEN1	p.G206A	[31, 32]	0	Yes
PSEN1	p.H214Y	[33, 34]	0.000008952	No
PSEN1	p.P218L	[35]	0.0000179	Yes
PSEN1	p.L262F	[36]	0	Yes
PSEN1	p.R269H	[37, 38]	0	Yes
PSEN1	p.A396T	[34]	0	Yes
PSEN2	p.A85V	[24]	0.000008955	Yes
PSEN2	p.L238P	[39]	0.00002687	Yes
PSEN2	p.R284G	[40]	0.000008952	No

ISSN: 1471-2105