However the presence of the APOE-ε4 genotype is neither necessary nor sufficient for the development of the disease, indeed 40 – 70% of European LOAD patients do not carry an ε4 variant, and additional genetic loci remain to be identified [ 3].
A second study by deCODE Genetics in Reykjavik, Iceland, and a European consortium known as SGENE, which involved about 4700 schizophrenia cases and 41,200 controls, pinpointed these same two variants and an additional one on chromosome 15.
Confirmation data for reported results from 144 sequential clinical exome sequencing cases (94 unique variants) and an additional set of 16 variants from comparable research samples were analyzed.
No association was found between the DENND1B, TIMMDC1, IL7R, ELMO1, DDX6, TNFRSF1A, RAD51B, TNFAIP2, SPIB, and SNORD43 gene variants and SSc (Additional file 2: Table S2).
It is possible that certain genes described here may represent allelic variants and that additional NITR genes may be identified in future releases of the medaka genome.
A detailed understanding of genetic variants and their additional contribution to risk profiling may not be required, assuming the validity of the risk assessment.
Evaluation with individual synthetic in vitro transcripts at site 4 showed that the modified assay could also co-detect the rare ETV6 RUNX1 e5e3 and TCF3 PBX1 e13e2i27 variants and four additional MLL AFF1 variants without increasing the number of bead-conjugated probes.
In the 1990s, Modell and Darlison updated his work on hemoglobin variants and gathered additional data on the thalassemias from research reviews, country visits, and the former WHO Working Group on Haemoglobin Disorders into an almanac [Modell and Darlison, 2008].
The database can store all SNP and indel calls from thousands of samples, along with functional annotation of the variants and, optionally, additional information about samples and sequencing runs.
