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Microarrays à l'ère NGS. Avantages dans la détection des syndromes chromosomiques.
Malgré les dernières avancées de la technologie NGS et sa puissance dans le domaine de l'analyse et de la génomique, les puces à ADN continuent d'être un outil phare dans la détection des syndromes chromosomiques grâce à leurs avantages et bénéf...
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Microarrays in the NGS Era. Advantages in chromosomal syndrome detection.
Although NGS technology has continued to develop and has great potential in the fields of analysis and genomics, Microarrays continue to be a main tool in the detection of chromosomal syndromes thanks to their significant advantages and benefits...
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The importance of gamete donor genetic screening
Two Couples Sue After Children Are Born with Genetic Abnormality Traced Back to Donors Eggs A few days ago reported the case of two couples suing their doctor and fertility clinic in New York after giving birth to two children with a gen...
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May PGS contribute to reduce multiple birth rate?
HFEA’s annual statistical report, released on March 2016, gathered fertility figures for cycles performed in the UK within 2014, plus live birth rates for cycles carried out in 2013. HFEA (Human Fertilisation and Embryology Authority) is the nati...
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The exome: From the study of the symptoms to mutations of genes
In this post we discuss about the wide application of exome sequencing in the clinical sector. Exome is responsible for much of the final performance of our body. The exons contain  important information which, when it is decoded, it determines ...
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New genes involved in epilepsy
Genes SIK1 and MEF2C The latest scientific research shows new genes, SIK1 and MEF2C, involved in epilepsy. Dr. Alex Paciorkowski (Assistant Professor of Neurology at the University of Rochester Medical Center) with his team, led an investigati...
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Autism and genetics: Towards a Reliable Diagnosis of Autism
The genetics of autism is a promising area of clinical study, with an important projection in the health sector. Today it is still difficult to determine the exact cause of autism. It is a disease that is more prevalent in boys than girls, incr...
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ArrayCGH: New way for detecting the root of congenital genetic cardiomyopathies
The detection of the genetic cause in patients with congenital cardiomyopathies is one of the first steps to follow in order to achieve a good clinical care on patients. For detecting in an accurate and efficient way, today we speak about arrayCG...
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