Sentences with phrase «level mutation analysis»

The MuSiC package comprised our growing suite of cohort - level mutation analysis tools for cancer.

Not exact matches

Analysis of genomic, epigenetic, and RNA sequencing data revealed that the combinations of mutations that lowered the levels of functioning BRCA1 and BRCA2 RNA — genes that produce the breast cancer tumor suppressor proteins — were associated with significantly better survival outcomes.

Validating this original concept, we previously demonstrated that PGD - derived hES cells and their derivatives, which express the causal mutation implicated in the Myotonic Dystrophy type 1 (DM1), offer pertinent disease - cell models, applicable for a wide systemic mechanistic analysis ranging from functional studies at the cellular level to a large - scale drug screening.

Although their copy - number methods are based on «read» density, there are classes of mutations that require analysis at the level of the read.

The genomic analysis found that the level of diversity between the four individuals amounted to approximately 2 million variable mutations, which is roughly similar to overall diversity exhibited by other endangered carnivores.

Genetic analysis revealed that German shepherds with certain mutations in the PKP2 gene had a much higher risk of eczema, suggesting that low levels of the plakophilin - 2 protein break down the skin barrier in dogs with the mutation.