Articles

Simplify Gene Transcript Selection Using MANE Transcripts

For many genes, choosing the most optimal transcript for a specific analysis is a complex task. This is due to two main factors. Firstly, the frequently large number of transcripts listed for a certain gene, and also because gene browsers are inconsistent in the definition of which transcripts are considered to be “default”. NCBI (RefSeq) …

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Clinical trials highlights the importance of correct CFTR mutation detection in cystic fibrosis patients

Cystic Fibrosis is one of the most common genetic disorders. The disease is caused by mutations within the cystic fibrosis transmembrane conductance regulator gene (CFTR) leading to gradually decreasing lung function in affected patients. Current treatment protocols include symptomatic treatments for cystic fibrosis and a CFTR potentiator (Ivacaftor), which increases CFTR channel opening at the …

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No Significant Reduction in Miscarriage Rates from NIPT Pre-Screening for Trisomy 21 as compared to invasive testing

A recent paper published by Malan et al in the Journal of the American Medical Association (JAMA) describes a clinical study conducted over two years looking into the potential for reducing risk of miscarriage when performing cell-free fetal DNA (cfDNA) testing, NIPT testing, as compared to invasive fetal testing procedures. It has been hypothesised that …

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CRISPR Helps BRCA1 Researchers Determine Functional And Non-Functional Mutations

BRCA1 variants may generally be divided into three categories: benign variants, which cause no clinical concern; deleterious variants, which are associated with high risk of cancer and variants of uncertain significance (VUS). Although millions of women worldwide have been sequenced for BRCA1 and 2, VUS continue to pose an important clinical problem for geneticists when …

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New Technique for Measuring Gene Expression Dynamics

A recent publication in Nature highlights recent research by a collaborative team from Karolinska Institute, Stockholm, and Harvard Medical School, Boston. To understand the function of complex tissues over time, scientists have succeeded in taking expression snapshots of various genes within tissues. However, until now tools for measuring the complex interplay of the more than …

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Recent Research in Predicting Onset of AML – Oncology

Two new studies attempting to define the genetic landscape of individuals who later develop Acute Myeloid Leukemia (AML) were recently published in Nature and Nature Medicine Nature Medicine published a report (P Desai et al) regarding 212 women from the Women’s Health Initiative who were healthy at study baseline, but eventually developed AML during follow-up …

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Robust NGS workflow provides full BRCA1 & BRCA2 screening

The team at Devyser were excited to see our products put to use in a recent research project, affirming its application in both research and diagnostic applications. “a comprehensive BRCA1 & BRCA2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis”, published in Clinica Chimica Acta 480 …

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