Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities during pregnancy, according to a study by researchers at the National Institutes ...
Aug 30, 2017
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When researchers say they have sequenced the human genome, there is a caveat to this statement: a lot of the human genome is sequenced and assembled, but there are regions that are full of repetitive elements, making them ...
Feb 7, 2019
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Scientists at deCODE genetics in Iceland, a subsidiary of Amgen, today publish the first genetic map of the human genome developed using whole-genome sequence data.
Jan 24, 2019
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Thyroid hormones have important and diverse roles in human health and regulate metabolic rate. Thyroid disease is common (affecting 5-10 per cent of the population) and synthetic thyroid hormones are one of the commonest ...
Mar 9, 2015
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Genomics England, a government owned company, recently announced a pilot program of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns.
Nov 17, 2021
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Researchers in the United States have identified a molecular network that comprises many of the genes previously shown to contribute to autism spectrum disorders. The findings provide a map of some of the crucial protein ...
Dec 30, 2014
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Smoking-related DNA methylation patterns explain around a fifth of the variation in body mass index (BMI) between individuals, according to a study publishing September 9th in the open-access journal PLOS Genetics, led by ...
Sep 9, 2021
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Scientists are getting their first peek at the genes of nearly 100,000 Americans in what's considered a uniquely diverse genomic database—part of a quest to reduce health disparities and end cookie-cutter care.
Mar 17, 2022
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As genomic sequencing becomes increasingly commonplace in the clinic, questions remain about its use and role among newborns. Can sequencing provide actionable insights? How common is it to find something important to a child's ...
Jan 3, 2019
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A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic diseases in an average of eight hours—a feat that's nearly unheard of in standard ...
Jan 12, 2022
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