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  • EXCESS OF SPECIAL LONG INTRONS DETECTED IN BRAIN GENES
    The research is published in the journal Plos One. It is known that DNA encodes information about the structure and functioning of living organisms. In this "book of life", sequentially, nucleotide by nucleotide, information about all proteins and RNA formed in the cell is recorded. A DNA fragment encoding information about a single protein is called a gene, and the method of "translating" a DNA sequence into an amino acid sequence of a protein is called a genetic code.
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  • Problems with alcohol? 29 gene variants may explain why
    A genome-wide analysis of more than 435,000 people has identified 29 genetic variants linked to problematic drinking, researchers report.
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  • New protein complex gets chromosomes sorted
    Researchers have identified a novel protein complex that regulates Aurora B localization to ensure that chromosomes are correctly separated during cell division. The complex, NWC, is made up of three proteins: NOL11, WDR43, and Cirhin. In the absence of NWC, Aurora B did not accumulate at centromeres, and chromosome movement and alignment were impaired. Together, these results show that NWC is required for faithful chromosome segregation.
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  • GENETICS PROVEN: EARLY DETECTION OF MUCOVISCIDOSIS ALLOWS TO REDUCE THE PATIENT'S NEED FOR EXPENSIVE TREATMENT IN THE FUTURE
    Mass screening of newborns for cystic fibrosis was introduced in Russia in 2006-2007. Children with this disease identified in the first weeks after birth during screening, with age, need less expensive therapy than their peers, whose disease was confirmed after the onset of symptoms. Now it has been statistically proven: specialists from the Scientific and Clinical Department of Cystic Fibrosis of the Moscow State Scientific Center have compared the indicators of patients aged 6 to 9 years, noted in the National Register of Patients with Cystic Fibrosis of different years of release.
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  • Sperm Single-Cell Sequencing Study Offers Insight Into Meiotic Variation
    Previous studies have relied on genotyping data from families or direct visualization to investigate meiosis — a process needed for reproduction that is error-prone and can lead to aneuploidy. Harvard's Steven McCarroll and his colleagues have now created an approach they dubbed Sperm-seq to sequence thousands of sperm genomes quickly and at the same time. 
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  • A newly discovered disease may lead to better treatment of cystic fibrosis
    Cystic fibrosis is the most frequent severe inherited disorder worldwide. Researchers have now discovered a novel disease that might lead to a better understanding of cystic fibrosis and new treatment options in the future.
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