Sentence examples for mutations or variants from inspiring English sources

Researchers are hard at work identifying specific genes and mutations (or variants) that play a role in the diagnosis, prognosis, and treatment of cardiovascular disease.

They were tackling a persistent problem in genome science: how to maintain patient privacy while also accumulating and analyzing the multitudes of DNA sequences necessary to determine which genetic mutations, or variants, are associated with the development of particular diseases.

Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A.

But the original hope that close study of the genome would identify mutations or variants that cause diseases like cancer, Alzheimer's and heart ailments — and generate treatments for them — has given way to realization that the causes of most diseases are enormously complex and not easily traced to a simple mutation or two.

Thus, a considerable amount of effort has been devoted to identifying genetic mutations or variants that associate with these perplexing and often devastating, life-long disorders.

Previous work has found differences in acute pain perception, and response to analgesia in mice and humans with mutations or variants in MC1R.

However, we suggest that mutation or variants of VANGL and other PCP genes should be considered as possible causes of the variable glomerular numbers observed in human kidneys.

We annotated each variant in Table  8 as to whether it would be reviewed in a variant interpretation workflow focused exclusively on known disease mutations or exonic/splice variants; 50% or more variants would be filtered out automatically and not reviewed further.

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").

To determine whether novel variants were somatic mutations or germline variants, the appropriate tumor DNA and matched normal DNA were re-amplified in an independent PCR followed by sequence analysis of the variant position.

The new study shows that all the affected members have inherited a mutation, or variant piece of DNA, in a specific gene.