Sentence examples for variant interpretation of from inspiring English sources

Moreover, our hypothesis is supported by the guideline for variant interpretation of copy number variation [10] that suggests that if CNV is shown to represent a de novo mutation in the proband, this is generally taken as evidence supporting pathogenicity.

Compared to WGS or WES, a restriction to candidate genes selected based on the clinical presentation of the patient and/or restricted to all known OMIM-listed genes is cheaper and quicker and detects clinically relevant variant interpretation of known disease genes easier.

In collaboration with ISMB organizers, we are also promoting the formation of VarI-COSI (Variant Interpretation Community of Special Interest).

Additionally, we encourage the interested readers to join our effort to establish the VarI-COSI - Variant Interpretation Community of Special Interest - a hub for variation research-related year-round activity.

The study by Ruklisa et al. [ 1] and future work in this area hold great potential to transform and improve variant interpretation, in terms of both speed and cost of analysis and the accuracy of its conclusions.

A research article in Genome Medicine by Ruklisa, Ware and colleagues [ 1] now presents a key contribution to the field of variant interpretation in the clinical domain of heart phenotypes.

SCGPM Seminar: "Summing the Parts: How Invitae Created a Best-in-Class Variant Interpretation System", Jon Sorenson of Invitae, April 19th, 2017 at noon at Clark S361.

Although labor and cost have decreased with the advent of novel technologies, the problem of variant interpretation has increased proportional to the range and sensitivity of the screening methods.

Clinical experience of variant interpretation was summarized in recent American College of Medical Genetics and Genomics guidelines for interpretation of sequence variants.2 However, it is rarely mentioned that the reference genome sequence itself represents a problem for discovery and interpretation of variation.

As summarized in Table  3, all the currently available platforms lack one or more of the essential aspects of variant interpretation present in VariantDB.

An important use of the data is for variant interpretation, that is, the assessment of the clinical impact of a genetic variant.