Newborn screening is required in the U.S. and differs slightly depending on which state you live in. For the most part, it's done before a newborn baby leaves the hospital and includes a blood test that screens for 30-50 ...
May 24, 2019
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"Five things to know about ... melanoma" in CMAJ (Canadian Medical Association Journal) provides a brief overview of this malignant skin cancer for physicians and patients.
May 13, 2019
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Scientists comparing treatments for gonorrhoea have identified a drug combination that could be an effective back-up for patients not responding to current therapy.
May 3, 2019
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Researchers at Rady Children's Institute for Genomic Medicine (RCIGM) have utilized a machine-learning process and clinical natural language processing (CNLP) to diagnose rare genetic diseases in record time. This new method ...
Apr 24, 2019
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Human genomes vary quite a bit from individual to individual. These differences include single nucleotide changes, or "spelling mistakes" in the DNA sequence, but even more variation comes from structural variants, which ...
Apr 16, 2019
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A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA ...
Apr 15, 2019
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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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Genetic testing improves the diagnoses of abnormalities in developing babies that are picked up during ultrasound scans, scientists report today (31 January) in The Lancet. Scientists from the Wellcome Sanger Institute, University ...
Jan 31, 2019
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A new kind of prenatal genetic testing can improve obstetricians' ability to diagnose the underlying causes of fetal anomalies found during prenatal ultrasounds. But the results require expert interpretation, according to ...
Jan 31, 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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