Fig. 1: Steps in the transmission of genetic information. Any of these steps may be affected
by mutation.(A) Information is encoded in the DNA double helix.(B) An RNA transcript is …

This book, published on behalf of the Human Genome Organization, stems from an
International meeting on Mutation Detection, and presents a collection of fundamental …

A clinician's plea | Nature Genetics Skip to main content Thank you for visiting nature.com.
You are using a browser version with limited support for CSS. To obtain the best experience …

Examination of stretches of DNA for mutations in genes was once the preserve of those
interested in rare inherited disorders of humans. That is still the case, but this activity has …

Most of the mutations responsible for genetic disease are remarkably subtle, considering the
dramatic effects they may have on the phenotype. A change in just one of many thousand …

Mutation detection is one of the most important areas of molecular biology today. Once the
preserve of those interested in rare inherited human disorders, it has recently moved to …

Efficient methods for the detection of mutations are of fundamental importance in research
and in diagnostics. By detection of a DNA sequence alteration that cosegregates with a …

Dr. Joshua Clayton, a 29-year-old radiology resident at Baylor University Medical Center in
Dallas, wanted to learn about his ancestry. So he sent a sample of his saliva to 23andMe …

This unit describes the overview and strategies for molecular genetic diagnosis. Molecular
genetic testing is typically used to detect changes in a single gene, and includes direct …

The completion of the Human Genome Project provided a reference sequence to which
researchers could compare sequences from individual patients in the hope of identifying …