Articles

Whole genome sequencing: patient privacy back in focus

Individual and patient privacy concerns have come back into focus with a recent ruling from a US court allowing police access to all patient records in a gene sequencing database of some 1.3million individuals owned by the company GEDmatch. The legal warrant overrides individual privacy selections made when providing their DNA sample to the database …

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Easily identify BRCA1 and BRCA2 genetic mutations

With cancer identified as the leading cause of death in high-income countries, early identification and treatment of cancer, and potential cancer-causing genetic variants, is essential. As the second most common cancer worldwide, and the most frequently diagnosed cancer among women, breast cancer nonetheless has a high survival rate if diagnosed and treated. Read more about …

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CRISPR-Cas9 presents new possibilities for Thalassemia treatment.

The autosomal recessive inherited blood disorder, b-thalassemia, is caused by reduced or absent synthesis of the beta chains of hemoglobin due to mutations within the HBB gene. The severity of the disease depends on the nature of the mutation and whether the mutations are present in heterozygous or homozygous form. Another autosomal recessive inherited hemoglobinopathy …

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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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