Sentence examples for quantitative mutation from inspiring English sources

The obtained mtDNAs were subject to a fully automatic processing for quantitative mutation detection using integrated micropumps, micromixer and microtemperature control modules capable of mutation sensing by restriction enzyme digestion and real-time on-chip micro-PCR.

SCD may occur as a homozygous inheritance of haemoglobin S (HbSS), heterozygous inheritance of HbS with other β-globin mutations (e.g. HbSC) or even quantitative mutations that result in decreased or absent β-globin synthesis (the thalassaaemias) [ 1, 2].

We found no evidence for quantitative (germline mutation rate) or qualitative (mutation spectrum) differences in CEB1 minisatellite mutations between case and control families.

Further, quantitative gene mutations were much higher in cancer patients of Caucasian ancestry compared with other ethnic groups.

Multiple testing for quantitative gene mutations or genomic sequencing of cancer patients may be more accurate in defining cases at higher risk of thrombosis.

QTL mapping has been very successful in domestic animals but the identification of quantitative trait mutations (QTMs) is still a challenge although a few prominent successful cases have been reported [ 28].

In addition to providing quantitative assessment of mutation burden, the increased sensitivity of pyrosequencing analysis allowed us to identify low-frequency mutations (mutation burden <30%) in a subset of tumours, which had not been identified by automated base calling analysis of our dideoxy sequencing data.

Quantitative assessment of mutation burden may permit a more detailed evaluation of the role of specific tumour mutations in the pathogenesis and progression of colorectal cancer and may improve future patient selection for targeted drug therapies.

Furthermore, quantitative comparison of mutation frequencies of each site between two groups resulted in a spectrum of substitutions associated with liver disease progression, and among which, C2288A/T, C2304A, and A/G2525C/T were novel candidates.

Using such quantitative measures, two mutation levels were apparent.

This would justify the development and application of quantitative techniques for mutation screening, particularly for MPS IIID, where there is a proportionally higher occurrence of large rearrangements.