Stanford University School of Medicine researchers have predicted the inherited health risks of a four-person family by analyzing their whole genome sequences. With the DNA sequences of both parents and children, the team ...
Sep 15, 2011
0
0
Scientists from the University of Utah and Omicia, Inc., a privately held company developing tools to interpret personal genome sequences, today announced the publication in Genome Research of a new software tool called VAAST, ...
Jun 23, 2011
0
0
A new Brown University computer analysis that predicts the effect of genetic mutations on how the body splices mRNA indicates as many as a third of disease-related mutations may be linked to splicing problems -- more than ...
Jun 13, 2011
0
0
In a recent study, a Yale-led research team described for the first time a rare neurodevelopmental syndrome that begins affecting patients during infancy and typically causes developmental delays, severe seizures, cardiac ...
Jun 25, 2024
0
0
Lichen striatus (LS), a skin condition manifesting as linear eruptions following Blaschko's lines on the trunk or limbs of children, is often accompanied by hypopigmentation (loss of melanin or skin color). Interestingly, ...
Jan 16, 2024
0
0
In a landmark study of 125 Australian children with high-risk cancer—whose tumor cells were grown in the lab and tested against a suite of potential therapies—Children's Cancer Institute researchers have found that they ...
Aug 2, 2023
0
1
A new study co-led by ISGlobal, the Manhiça Health Research Centre (CISM) and the Instituto de Biomedicina de Valencia (IBV), used cutting-edge sequencing technology and phylogenetic analysis to study the second and third ...
May 16, 2023
0
40
A study conducted in Serrana, a small town in São Paulo state used as a model for COVID-19 vaccination in Brazil, shows that mass vaccination reduced the severe case and death rates even while the gamma and delta variants ...
Dec 21, 2022
0
4
At the onset of the SARS-CoV-2 pandemic, fears emerged that it would overwhelm the weak health systems in many African countries. However, it turned out that Europe and America had much higher incidences and fatality rates ...
Nov 16, 2021
0
15
In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease ...
Oct 27, 2020
0
13
