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What we know about Bloom’s syndrome
The use of a new approach in studies of DNA repair syndromes opens an unprecedented path for understanding important cha [...]
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Should all cancer patients take genetic tests?
The importance of genetic evaluation of cancer patients has grown more and more, but it is important that the test is re [...]
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Neonatal Screening for Primary Immunodeficiencies
Screening based on neonatal population is very important to identify several serious diseases that with rapid interventi [...]
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Varstation and Hospital Israelita Albert Einstein create the world’s first genetic examination for large-scale detection of the new coronavirus using the NGS sequencing technique
With accuracy equivalent to the one used in the RT-PCR method, the gold standard of diagnosis, the new technique is more [...]
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What is a BED file?
The BED (Browser Extensible Data) format is a flexible and simple way to represent genomic regions. [...]
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