Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...
On World Birth Defects Day, India's congenital anomalies burden is spotlighted with roughly 472,000 affected births annually, ...
Scientists from Skoltech, Philips Research, and Goethe University Frankfurt have trained a neural network to detect anomalies in medical images to assist physicians in sifting through countless scans ...
Background Congenital anomalies are among the common health problems faced by children in low- and middle-income countries, ...
BGI-Research and the Maternal and Child Health Hospital of Hubei Province (MCHH) published whole-genome sequencing research results in npj Genomic Medicine. These results have revealed the genomic ...
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$8.7 million award supports faster genetic diagnosis of lymphatic diseases
A team of researchers led by Columbia University Vagelos College of Physicians and Surgeons has been awarded an up to two-year $8.7 million contract from the Advanced Research Projects Agency for ...
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