Sentences with phrase «genomic rearrangements»

The commercial tests were based on both Sanger sequencing and supplementary testing for large genomic rearrangements in both genes.

We excluded large genomic rearrangements from this analysis as those mutations span multiple bins and also undertook a subset analysis with and without missense mutations.

A new study published today describes how a complex genomic rearrangement causes a fascinating phenotype in chickens.

These sites are frequently observed in cancer cells and are responsible for causing genomic rearrangements.

Emerging Role of Genomic Rearrangements in Breast Cancer: Applying Knowledge from Other Cancers.

The researchers discovered striking differences from other invertebrates, including widespread genomic rearrangements and a dramatic expansion of a family of genes involved in neuronal development that was once thought to be unique to vertebrates.

Published in the March 31 advance online issue of Cell, their findings reveal that circular RNAs — like their protein counterparts — are also affected by genomic rearrangements in cancer, resulting in abnormal fusions.

Genomic rearrangement means that a large number of different T cell receptors are possible.

Where once it was possible to test tumor samples for only one mutation or genomic rearrangement at a time, NGS technology now enables testing for multiple gene mutations in multiple samples simultaneously.

We considered recombination as an indicator of genome instability, as meiotic recombination increases the potential for heritable genomic rearrangements [66].

Levy has developed methods for identifying de novo mutations (i.e., those seen in a child but not in his or her parents) by simultaneously genotyping the entire family; the team is currently focused on building algorithms to detect copy - number variants and multiscale genomic rearrangements.

CIN impacts on tumor formation and development in many ways, for example by promoting loss of tumor suppressor function, or by causing extensive genomic rearrangements (Video 1).

Dr. Lopez - Correa also held the position of Head of Cytogenomics laboratory at deCODE genetics where she developed screening strategies to detect genomic rearrangements.

Whole genome sequencing and assembly of a Caenorhabditis elegans genome with complex genomic rearrangements using the MinION sequencing device

Complex structural variants (cxSVs) are genomic rearrangements comprising multiple structural variants, typically involving three or more breakpoint junctions.

A unique feature of the octopus genome appears to be widespread genomic rearrangements.

Understanding complex genomic rearrangements (CGRs), the culprit in the development of many types of cancer and genetic disorders, has always been a challenge because...

Although «genomic rearrangements have been associated with autism for awhile,» finding more of the novel changes is «quite exciting for the field,» says Simon Gregory, an associate professor of medical genetics at Duke University's Center for Human Genetics, who was not involved in the study.

Explanatory note: A genomic rearrangement constitutes an extra copy of a DNA fragment (duplication), a missing DNA fragment (deletion), an inverted copy of a DNA fragment (inversion) or a DNA fragment that has been moved to a new place (translocation).

The research group led by Leif Andersson has by now characterized a number of traits in domestic animals, and a clear trend is emerging, namely that genomic rearrangements have contributed significantly to the rapid evolution of domestic animals.

Aging cells and tissues accumulate point mutations and genomic rearrangements, consistent with a failing ability to defend their genomes against DNA damage.

In the postgenomic era, the availability of human genome sequence for genome - wide analysis has revealed higher - order architectural features (i.e., beyond primary sequence information) that may cause genomic instability and susceptibility to genomic rearrangements.