Sentence examples for reports of variants from inspiring English sources

A brief review of the literature indicates that gene test reports of variants of uncertain significance range widely.

Although there have been several reports of variants of the β-globin genes found in patients living in the North of Europe and with no known ancestry in regions where thalassemia is endemic, to our knowledge, ancestry-informative markers spanning different genomic regions have not been used so far to confirm the origin of patients.

Although there have been several reports of variants of the β-globin genes found in patients living in the North of Europe and with no known ancestry in regions where thalassemia is endemic, this is the first time a genetic study using ancestry-informative markers has been conducted to confirm the origin of patients.

To our knowledge this is the first report of variants in the NPY1R/NPY5R genes being associated with nutrient-specific food intake.

First, the sequences need not represent real alleles of genes: they can be composites that provide a practical working framework for the reporting of variants.

Consequently, the reporting of variants in genomic DNA coordinates using RefSeq genomic contig sequences has been cumbersome, especially if the gene of interest lies on the reverse strand.

Instead, the results focus on the collected information that reflects the considerations for the interpretation and reporting of variants − including personal communication.

Additionally there have been many products developed to address the selection and reporting of variants for pathogenic variant selection including the workflow to identify those variants (e.g., Gensight [ 16], Cartagenia [ 17], Clinical Genomicist [ 18]).

One of the most significant challenges in bringing high throughput sequencing into routine clinical care is that of scaling the difficult and highly manual job of curation, classification/interpretation and reporting of variants.

We highlight critical implementation choices, including the specific contributions of laboratory and medical specialists, bioinformaticians and researchers to diagnostic genome care, and how these affect interpretation and reporting of variants.

This approach has enabled rapid adoption, but has resulted in a wide diversity of implementation approaches and great variability in the methods used for evaluation, interpretation and reporting of variants.