These are usually discarded a priori, as it remains unclear how best to resolve these as either benign variation, or variants conferring disease susceptibility.
Key search terms included ("Fuchs' endothelial dystrophy," or "Fuchs' endothelial corneal dystrophy,") and (" transcription factor 4," or " TCF4, or " immunoglobulin transcription factor 2," or "E2-2," or "SL3-3 enhancer factor 2," or "SEF2," or "rs613872," "rs17595731" or "rs2286812" OR "rs9954153") and ("polymorphism," or "variation," or "mutation," or "variant," or "genotype," or "allele").
20 This could simply mean that GHR variation does not significantly influence growth or the SNP that tags GHR exon 3 in the GWAS does not recapitulate all the genomic variability at the locus, including the d3, other copy number variations, or rare variants.
Nota Bene: This article refers to genetic variants interchangeably as variants, variations, or mutations.
Genomic loci or variants that contribute to variation in gene expression levels at proximal or distal loci.
Additional investigations of family members, computational analysis in combination with published databases and systematic analysis of genomic polymorphisms will provide further insight into the plasticity of the human genome, therefore helping to determine if these are normal variations, disease susceptibility variants, or may cause disease in association with other alleles [60].
The reasons underlying the errors were identified and errors were assigned to one or more categories (the breakdown of which is shown in Table 6):Word variations: Lexical variants of the same disease.
Furthermore, it is likely that biological variation accentuates one variant or the other, such that different conditions dominate in different tissues or species and that mRNPs from certain genes preferentially use specific export factors.
Statistical corrections to the read counts are required when the density of local variations allows multiple variants to fall in the same read or read-pair.
