genetics

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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Presentation at Polish Human Genetics Congress 2018, Bydgoszcz.

Our Technical Executive Manager, Sandra Kazemi, with our partners Magda and Michal from Biovigen in Poland. Sandra will present tonight at 18:40 at the Polish Human Genetics Congress, Bydgoszcz. Join us as we explore “QF-PCR – a fast and reliable method for prenatal aneuploidy analysis and determination of maternal cell contamination”  If you’re in attendence …

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