Skip to main content
Premium Trial:

Request an Annual Quote

NHGRI Planners Seek Comments on Next-Gen Sequencing

NEW YORK (GenomeWeb News) — The National Human Genome Research Institute is asking for feedback from the research community on how next-generation DNA sequencing technologies affect biomedical research and medicine.

The institute detailed its questions about next-gen sequencing in a new white paper, called "The Future of Genome Sequencing." It is the fourth in a series of papers aimed at generating a public dialogue about NHGRI's role in supporting genomics research over the coming years.

In the paper, which presents a number of questions about the future of sequencing, NHGRI said it is particularly interested in finding out if it is asking "the right questions" and if there are others it should be asking.

NHGRI posed a number of questions about the consequences of next-generation sequencing technologies on medicine and biomedical research, including:

• How will metagenomic sequencing, resequencing, and de novo genome sequencing be used?
• What community resources are needed that can be generated using next-gen technologies?
• What scale of sequencing will be required to address these questions?
• What impact will these technologies have on data analysis and informatics and what software and data storage needs will they create?
• Will sequencing efforts need to be organized differently to accommodate the new technologies?
• Should funding agencies anticipate the rapidly changing sequencing technologies?
• How will new technologies affect the current approach that is centered on a few very large production-oriented centers in terms of the generation of sequence data and the associated informatics requirements?
• Are there some projects that only large centers can accomplish, or is there some merit in de-centralizing the sequencing resources?

In addition, NHGRI has posed several questions related to the value of new sequencing technologies for basic research, clinical research, and healthcare delivery, and how data from this research can be used to improve human health.

The white paper can be found here.

The Scan

Study Tracks Outcomes in Children Born to Zika Virus-Infected Mothers

By following pregnancy outcomes for women with RT-PCR-confirmed Zika virus infections, researchers saw in Lancet Regional Health congenital abnormalities in roughly one-third of live-born children.

Team Presents Benchmark Study of RNA Classification Tools

With more than 135 transcriptomic datasets, researchers tested two dozen coding and non-coding RNA classification tools, establishing a set of potentially misclassified transcripts, as they report in Nucleic Acids Research.

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.

Study Explores Animated Digital Message Approach to Communicate Genetic Test Results to Family Members

In the Journal of Genetic Counseling, the approach showed promise in participants presented with a hypothetical scenario related to a familial hereditary breast and ovarian cancer syndrome diagnosis.