In this prospective, multicenter and observational study, pregnant women at elevated risk for fetal genetic conditions were enrolled for a cfDNA screening test based on coordinative allele-aware target enrichment sequencing. This test encompasses the following three of the most frequent pathogenic genetic...
Strategies using medical history–based screening to identify monogenic risk (ie, the analysis of family history and personal history to actively identify potential genetic risk for cancer and heart disease) were designed in the 1990s and ar...
The ethically controversial option of genetic population screening used to be restricted to a small number of rather rare diseases by methodological limitations which are now about to be overcome. With the new technology of DNA microarrays ("DNA chip"), emerging from the synthesis of ...
Targeted sequencing (instead of WGS) is used when the goal of the experiment is to sequence specific genes, sets of related genes, or targeted regions of a genome. An example of targeted sequencing is screening for known cancer...
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies Article 22 January 2024 Introduction Cell-free fetal DNA (cffDNA) in maternal peripheral blood, discovered by Lo et al.1, makes it possible to infer the fetal inheritance in a noninvasive way and led ...
One genetic chip, its anti-obesity activity for being used to check and search for drug or food, with a kind of method, for checking and searching for the anti-obesity activity of drug or be arranged to allow useful food or drug by using the food of genetic chip, to be searched more...
diseases, pharmacogenomics, and psychiatric conditions. Social attitudes toward disability are less negative than they once were and this is reflected in the way genetic counseling is provided. Genetic analysis has become more sophisticated. There are more treatment and management options for the health...
Access to genetic counseling resources Next-generation sequencing service for screening for heart disease, some cancers and blood disorders You can download your full DNA results profile You can upload the raw data into other tools Partnership with FamilySearch.org, a genealogical records site run by...
Research groups are increasingly focusing on broadening the scope of cfDNA screening for an accurate detection of other genetic disorders. Prices of the tests are expected to drop in the near future, making NIPT affordable for more pregnant women throughout the world. It can be expected that the...
In order to test the application of DHPLC to a genetically heterogeneous disease, we applied DHPLC to mutation screening in Charcot-Marie-Tooth neuropathy (CMT [MIM118200]), one of the most common inherited neurolog- ical diseases.7,8 At least 15 genetic loci and 9 genes have been ...