Sentence examples for for identifying mutations from inspiring English sources

This study aimed to design a reliable and rational approach for identifying mutations in the CYP21A2 gene and to characterize the molecular basis of 21-OHD in 30 Chinese patients.

Several studies have utilized NGS for identifying mutations.

Here, we present a general framework for identifying mutations using NGS without requiring an a-priori reference genome of the WT organism.

Several sets of tools have become available that attempt to predict the functional impact of amino acid substitutions, thus providing a valuable arsenal for identifying mutations that should be the subject of further investigations [1] [6].

A major barrier for identifying mutations through sequencing is the inherent dependence on a high-quality reference genome, and while, so far, over 1,200 genomes were fully sequenced, most isolated organisms lack a reference genome [9].

The computational tools we have developed should be useful for identifying mutations in Bacteria and Archaea, as long as there is a closely related strain with a complete annotated genome.

This article comprehensively evaluates a series of named entity recognition tools for identifying mutation mentions.

Extended families with multiple cases are a proven means of discovering genes that when mutated convey a high risk of disease [ 25], and are an efficient sampling design for identifying mutation carriers for studies of genetic and environmental risk modifiers.

CAPS-based and dCAPS-based PCR genotyping primers were designed for identified mutations (Table S2) to determine linkage between ABA-resistant root elongation and the identified mutations.

The concrete goals of genetic testing and appropriate measures for identified mutation carriers are to identify these women and include them in surveillance programs enabling early detection and/or prevention of the occurrence of breast/ovarian cancer.

Also, by integrating copy-number and deep re-sequencing data, the authors calculated allele frequencies for thousands of identified mutations.