List: Interesting Publications | Curated by Franklin by Genoox | Medium

Franklin by Genoox

Jun 2, 2023

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Interesting Publications

Franklin by Genoox

Fresh research suggests genetic testing should be recommended for early-onset atrial fibrillation

A new cohort study from Vanderbilt University Medical Center explores the prevalence of disease-associated variants in genes in some…

Feb 16, 2022

Flow chart from the publication, from 1293 WGS to just 400 classified variants in need of manual review

Feb 16, 2022

Franklin by Genoox

New oncogenicity classification guidelines for somatic variants

New standards for somatic variant classification have recently been developed by Clinical Genome Resource (ClinGen), Cancer Genomics…

Mar 29, 2022

Suggested step-by-step workflow for somatic variant classification and interpretation with this new tool

Mar 29, 2022

Franklin by Genoox

AMP classification guidelines to enhance Rare Disease and Cancer patient care

The ability to identify genomic, transcriptional, proteomic, and epigenetic alterations in tumors has resulted in a better understanding of…

Mar 31, 2022

Categories of Clinical and/or Experimental Evidence

Mar 31, 2022

Franklin by Genoox

Prenatal diagnosis: New study suggests exome sequencing could replace microarray as a first-tier…

Could NGS technologies replace cytogenetics as the gold standard for prenatal genetic diagnosis? With the increasing availability of…

May 23, 2022

Prenatal diagnosis: New study suggests exome sequencing could replace microarray as a first-tier…

May 23, 2022

Franklin by Genoox

Data-sharing on the variant level to improve genetic diagnosis and discovery

Franklin has collaborated on data-sharing initiatives with additional databases that provide variant-level information with phenotypic…

Jul 11, 2022

Data-sharing on the variant level to improve genetic diagnosis and discovery

Jul 11, 2022

Franklin by Genoox

One test, two answers — Genetic Testing in Ovarian Cancer

Ovarian Cancer (OC) is one of the most deadly types of cancer worldwide, with more than 20% of patients carrying hereditary cancer…

Feb 5, 2023

Feb 5, 2023

Franklin by Genoox
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