Fourteen of the 134 relapse SNPs, including variants in PDE4B and ABCB1, were also associated with antileukemic drug pharmacokinetics and/or pharmacodynamics.
Other possible loci that did not reach GWAS significance included variants in the zinc finger protein gene GLI3 (rs2049622; P = 8.9×10 -6)) and upstream of GLI2 (rs6721654; P = 6.5×10 -6)), encoding retinal Sonic hedgehog signalling regulators, and in the tyrosinase (TYR) gene (rs621313; P = 3.5×10 -6)), involved in melanin biosynthesis.
When the non-native speech is heterogeneous in the sense that it is produced by speakers with different mother tongues, as in our case, it may be extremely difficult to capture the rather diffuse pattern of variation by including variants in the lexicon (see also [4]).
Over the past few years, several single nucleotide polymorphisms (SNPs) have been associated with AMD, including variants in the CFH and ARMS2 genes [15] [26], [64].
An annotated variant file was created that included variants in any of the four family members (male child, female child, father, and mother).
Six additional non-synonymous SNVs were discovered and confirmed (Supplementary Table 3), including variants in AKAP1, PCNT and RERE, all of which have been implicated in cancer.
A further 187 CS/CSL patients have a PTEN variant including variants in the minimal promoter region, synonymous changes, large intronic deletions detected by MLPA, and non-splice site intronic variants within −10 bases from exon/intron boundary.
This emphasizes the importance of functional evaluation of all potential variants affecting splicing, including variants in the consensus splice sites, as cryptic splice sites can result in small in-frame deletions or insertions that may not be pathogenic.
This unique approach to targeted gene sequencing identified a large number of putative disease-causing variants in a cohort of patients with BAV, including variants in 26 genes not previously associated with human BAV.
This approach identified a large number of putative disease-causing variants in a cohort of patients with BAV, including variants in 26 genes not previously associated with human BAV.
