Congenital diaphragmatic hernia (CDH) is a common, life-threatening birth defect. Often, CDH occurs with other birth defects (CDH+). In a new study, researchers at Baylor College of Medicine have ...
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Long-read RNA sequencing tool boosts rare-disease diagnoses missed by DNA tests
For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...
This article was published in Scientific American’s former blog network and reflects the views of the author, not necessarily those of Scientific American Sequencing of the exome – the ...
In the two decades since the Human Genome Project mapped the entire human genome, improvements in technology have helped in developing updated reference genomes used for sequencing. But while the ...
Transformed SCLC from EGFR-mutated LUAD shows a unique mutational profile, complicating treatment approaches and highlighting the need for tailored therapies. Whole exome sequencing revealed ...
Please provide your email address to receive an email when new articles are posted on . Researchers at New York University, Weill Cornell Medicine and New York Genome Center have developed and tested ...
A new Points to Consider document from the ACMG aims to assist referring physicians, laboratory geneticists, genetic counselors and other medical professionals in understanding the complexity and ...
In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that ...
Exome sequencing of patients with kidney disease and their families identified 17 different monogenetic causes of kidney disease. A new study is raising the hope that genetic testing might help ...
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