Sentence examples for unpublished variants from inspiring English sources
Major efforts are being done to keep the content of the databases up to date and direct submissions are encouraged to also include unpublished variants.
The database includes 15 previously unpublished variants in VPS33B and five in VIPAR that have been classed as "pathogenic" (Table 1).
The following sources of mutational data were used in this study: (a) scientific literature, (b) MITOMAP list of unpublished variants (1), (c) GenBank, (d) Phylotree (96) and (e) three unpublished variations (see below).
A highly interesting variation was recently listed in the MITOMAP unpublished variant database.
Subsequent variant analysis identified an unpublished missense variation in the ADAMTS10 gene.
Curated outcomes and unpublished RET gene variants with known disease association were used to benchmark predictor performance.
Finally, several unpublished RET disease variants (n = 5) with known pathogenic outcomes (by surgical pathology, molecular testing and family history) were identified during routine genetic testing at ARUP Laboratories.
G6PD Wayne [22], G6PD Vancouver [23], G6PD Gastonia, and G6PD Riverside (E. Beutler, unpublished data) are variants of patients of German emigrants.
Finally, several unpublished RET gene variants with known pathological (MEN2) outcomes (n = 5) were identified during routine genetic testing at ARUP Laboratories.
It should be noted that in the present study, nucleotide deletion and insertion characterising the M17 and M18 haplogroup lineages respectively were genotyped by direct capillary sequencing of all M173 positive samples, since conventional genotyping strategies do not appear to be appropriate in distinguishing between these variants (unpublished data).
It should be noted that the frequency of multiple loci reported here represents a minimum estimate, considering that this result is based on high resolution agarose gel electrophoresis which does not resolve all allelic variants (unpublished observations).
