(HealthDay)—Polygenic risk can mimic major monogenic mutation in severe hypertriglyceridemia, according to a case report published online July 25 in the Annals of Internal Medicine.
Jul 27, 2017
0
0
The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism. Single changes in the code ...
Feb 24, 2017
0
131
Scientists have developed an easy-to-use software tool that can detect important genetic mutations that previously needed to be identified by a separate test.
Nov 28, 2016
0
0
Many of the genetic variations that increase risk for schizophrenia are rare, making it difficult to study their role in the disease. To overcome this, the Psychiatric Genomics Consortium, an international team led by Jonathan ...
Nov 22, 2016
1
58
(Medical Xpress)—A large team of researchers with members from a host of countries across the globe has conducted an exhaustive study that has resulted in the development of a new genetic test to help identify development ...
Analysis of genetic variation in the exome, the DNA sequence of genes that are translated into protein, can aid in uncovering the cause of conditions for which no genetic cause could previously be found, and this can directly ...
Jun 1, 2014
0
0
A substantial proportion of risk for developing autism spectrum disorders (ASD), resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at ...
Apr 24, 2014
0
0
Whole genome sequencing—spelling out all 3 billion letters in the human genome—"is an obvious and powerful method for advancing our understanding of pancreatic cancer," according to a new study from TGen, Mayo Clinic ...
Oct 10, 2012
0
0
Researchers at the Sainte-Justine University Hospital Center and University of Montreal have identified genetic origins in 10% of an important form of congenital heart diseases by studying the genetic variability within families.
Sep 28, 2012
0
0
An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, reports that abnormal sequences of DNA known as rare copy number variants, or CNVs, appear to play a significant ...
Dec 21, 2011
0
0
