Evaluating the utility of multi|gene

Evaluating the utility of multi-gene, multi-disease population-based ...

Panel germline testing allows for the efficient detection of deleterious variants for multiple conditions, but the benefits and harms of ...

A framework evaluating the utility of multi-gene, multi-disease ...

However, the clinical utility of deleterious variants with moderate, uncertain penetrance depends more on assumed disutilities. The decision to ...

Evaluating the utility of multi-gene, multi-disease population-based ...

We present a multi-gene, multi-disease aggregate utility formula that allows the user to consider adding or removing each gene in a panel based on variant ...

A framework evaluating the utility of multi-gene, multi-disease ...

Abstract · Purpose Panel germline testing allows for the efficient detection of pathogenic variants for multiple conditions. · Methods We ...

Evaluating the Utility of Genetic Panels - Bynder

Genetic panel tests evaluate many genes simultaneously, and have been developed for numerous indications, including hereditary cancer risk ...

Evaluating the utility of multi-gene, multi-disease population-based ...

We present a multi-gene, multi-disease aggregate utility formula that allows the user to consider adding or removing each gene in a panel based ...

Evaluating the utility of personal genomic information - ScienceDirect

Even in the case of single-gene tests, multiple factors are involved in assessing a test's clinical utility. Although there are several tests for which there is ...

How Far Do We Go With Genetic Evaluation? Gene, Panel, and ...

These criteria include analytical and clinical validity, clinical utility, and the associated ethical, legal, and social issues. In the context of genetic ...

Evaluating the utility of multi-gene, multi-disease population-based ...

AbstractPanel germline testing allows for the efficient detection of deleterious variants for multiple conditions, but the benefits and harms of identifying ...

General Approach to Evaluating the Utility of Genetic Panels

Genetic panels that use next generation sequencing or chromosomal microarray, and are classified in one of the categories below, ...

Multi-Institutional, Prospective Clinical Utility Study Evaluating the ...

The current study assessed the clinical impact of the 92-gene assay on diagnostic and treatment decisions for patients with unknown or uncertain diagnoses.

Evaluating the evaluation of cancer driver genes - PNAS

Numerous methods have been developed to identify driver genes, but evaluation of the performance of these methods is hindered by the lack of a gold standard, ...

ACCE Model Process for Evaluating Genetic Tests - CDC Archive

An important by-product of the ACCE model process is the identification of gaps in knowledge that will help to define future research agendas. The ACCE approach ...

Evaluating the Utility of Genetic Panels - AAPC

Topic: Evaluating the Utility of Genetic Panels. Date of Origin: October 2013. Section: Genetic Testing. Last Reviewed Date: July 2014. Policy No: 64. Effective ...

Evaluation of the feasibility, diagnostic yield, and clinical utility of ...

Rapid genome sequencing revealed genetic heterogeneity, with 34 unique genes or genomic regions implicated. Genetic diagnoses had immediate ...

EmbedGEM: a framework to evaluate the utility of embeddings for ...

EmbedGEM (Embedding Genetic Evaluation Methods) evaluates embeddings along two dimensions: heritability and disease relevance. Using both simulated and real ...

P128: Evaluating the utility of gene expression profile testing in ...

Evaluating the utility of gene expression profile testing in pediatric melanoma: A case series. Acacia Bowden1, Jeanette Zambito2, Jinia El-Feghaly3, Jeffrey ...

A three-year follow-up study evaluating clinical utility of exome ...

For trio exomes, de novo and biallelic rare variants were prioritized. For singletons, genes with heterozygous variants absent from gnomAD, rare ...

Evaluating the Utility of Polygenic Risk Scores in Identifying High ...

Genome-wide association studies have identified common genetic risk variants in many loci associated with multiple cancers. We sought to systematically evaluate ...

Evaluating the utility of gene expression profile testing in pediatric ...

This case series shows the influence GEP can have on patient therapy and outcomes but additional studies are required to determine its clinical value.