Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...
A new study by Center for Advanced Bioenergy and Bioproducts Innovation (CABBI) researchers investigates how data from a machine learning-enabled high-throughput phenotyping method can (1) aid in ...
The combination of ADPKD genotype and baseline kidney size can predict rapid kidney function decline in routine clinical practice. Combining genotype and kidney length can identify nearly 9 out of 10 ...
Northwestern University biophysicists have developed a new computational tool for identifying gene combinations underlying complex illnesses such as diabetes, cancer, and asthma. Unlike single-gene ...
SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, ...
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. This approach contrasts with the typical phenotype-first ...
Scientists at deCODE genetics and collaborators, have identified a sequence variant in the CCDC201 gene that when inherited from both parents homozygous causes menopause on average nine years earlier.
Add The Scientist as a preferred Google source to see more of our trusted coverage. In this webinar, Katherine Novak, Zai Chang, and Raju Rayavarapu will discuss why data modernization is the critical ...
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