An international team of researchers led by Huntsman Cancer Institute (HCI) at the University of Utah (U of U) has developed, calibrated, and validated a novel tool for identifying the genetic changes in Lynch syndrome genes ...
Dec 10, 2018
0
6
International collaborative research led by Ludwine Messiaen, Ph.D., shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis ...
Sep 18, 2018
0
9
The combination of a new sequencing technique and machine learning can speed up the diagnosis of diseases in newborns and reduce false-positive results, Yale researchers and their collaborators report.
Sep 13, 2018
0
7
Whether an individual develops a neurodevelopmental disorder like autism or ADHD and the severity of that disorder depends on genetic changes beyond a single supposedly disease-causing mutation. A new study led by researchers ...
Sep 7, 2018
0
2
Today, diagnosing rare genetic diseases requires a slow process of educated guesswork. Gill Bejerano, Ph.D., associate professor of developmental biology and of computer science at Stanford, is working to speed it up.
Aug 17, 2018
0
115
Results from at-home genetic tests are not always accurate. A new study in the journal Genetics in Medicine, published by Springer Nature, now shows that up to 40 percent of direct-to-consumer (DTC) genetic tests provide ...
Mar 22, 2018
0
22
As genome sequencing enters the clinic, fears have arisen about its potential to motivate follow-up testing and ongoing screening that could drastically increase health care spending. But few studies have quantified the downstream ...
Mar 22, 2018
0
12
Parents of babies born with heart disease should be offered specialised cardiac genetic counselling to reduce risk, prevent disease and improve treatment, according to world-first research led by UNSW, UTS and the Sydney ...
Mar 2, 2018
0
1
Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast ...
Jan 18, 2018
0
837
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.
Jan 18, 2018
0
15
