Skip to main content
Premium Trial:

Request an Annual Quote

NHGRI Ponders Devoting Sequencing Capacity to Genetic Diseases; Invites Researchers to Comment

NEW YORK, Aug 8 (GenomeWeb News) - The National Human Genome Research Institute is considering turning its sequencing capacity into a mechanism that could pinpoint genetic variations that cause human Mendelian disorders, and is trying to gauge interest for such a program.


Last week, the institute invited scientists involved in this kind of research to say whether sequencing services provided by a large-scale center would benefit them. "The NHGRI is particularly interested in cases in which a major roadblock to completing those projects could be overcome by large-scale sequencing, and where the amount of sequencing required would be prohibitive to the individual investigator," NIGRI said.


For instance, appropriate cases could be those in which a disorder has been mapped to an interval that is too large for an individual to sequence, or where the sequencing of candidate genes has not yielded success, suggesting that the relevant change resides in a noncoding region.


For more information, click here.

The Scan

Unique Germline Variants Found Among Black Prostate Cancer Patients

Through an exome sequencing study appearing in JCO Precision Oncology, researchers have found unique pathogenic or likely pathogenic variants within a cohort of Black prostate cancer patients.

Analysis of Endogenous Parvoviral Elements Found Within Animal Genomes

Researchers at PLOS Biology have examined the coevolution of endogenous parvoviral elements and animal genomes to gain insight into using the viruses as gene therapy vectors.

Saliva Testing Can Reveal Mosaic CNVs Important in Intellectual Disability

An Australian team has compared the yield of chromosomal microarray testing of both blood and saliva samples for syndromic intellectual disability in the European Journal of Human Genetics.

Octopus Brain Complexity Linked to MicroRNA Expansions

Investigators saw microRNA gene expansions coinciding with complex brains when they analyzed certain cephalopod transcriptomes, as they report in Science Advances.