Sentence examples for mutation scanning of from inspiring English sources

Discovering the genetic causes of common diseases may require pan-genomic mutation scanning of all genes in a million people.

In this study, we developed and analytically validated a fully automated, robust confirmation sensitive capillary electrophoresis (CSCE) method to perform mutation scanning of the large SACS gene.

In conclusion, CSCE is a robust technique with a high analytical sensitivity and specificity, and it can readily be used for mutation scanning of the large SACS gene.

As a result, mutation scanning of short amplicons becomes feasible on a standard real-time PCR instrument (not primarily designed for HRM) using SYBR Green I.

This is one of the largest studies reported to date and the first that presents an approach combining genotyping and mutation scanning of two large polymorphic genes.

The aim of this study was to assess the sensitivity and specificity of an inexpensive HRM analysis platform for mutation scanning of single-base variation in a range of tumor samples: frozen pediatric small rounded blue-cell tumors and paraffin-embedded tumors from breast, endometrium and ovarian cancers.

By mutation scan of the TSHR gene located within the region of interest, a heterozygous substitution (A→T) at position 2071 of the TSHR was found, changing isoleucine 691 to phenylalanine (Figure 1) [17].

In a systematic mutation scan of positional candidates at the chromosome 22qtel candidate region we screened ~3400 nt of coding sequence including splice-donor sites and additionally parts of the 5'-UTR and 3'-UTR of KIAA0767 and KIAA1646, respectively.

This has a practical implication: for the validation of a mutation scan of over 50 amplicons using 100 mutant samples, it is not useful to screen all samples for all amplicons (ie, total of 50 × 100=5000 tests).

We have supplemented this analysis with: a re-examination of transcript levels in this new series of lesions, a mutation scan of the gene in primary tumours and tumour cell lines and an investigation of allele-specific expression in normal and tumour tissue.

COLD-PCR may be more useful for genotyping than mutation scanning because of limitations on amplicon size.