Skip to main content
Premium Trial:

Request an Annual Quote

NHGRI to Fund 'Under-utilized' X Chromosome Studies

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The National Human Genome Research Institute wants to encourage investigators interested in analyzing and using genome-wide association study data focused on the X chromosome to submit applications for funding through its research project grant programs.

The institute has suggested that there may be a shortage of data about the X chromosome, due largely to the exclusion of X chromosome variants from analyses, even though these regions are assayed on currently available microarray platforms.

GWAS have identified more than 1,200 associations for over 200 traits, but only seven such associations have been reported on the X chromosome, NHGRI said in a recent notice.

NHGRI is interested in funding a range of research approaches focused on these areas. The studies could involve more comprehensive analysis of existing GWAS data, including under-utilized information such as X, Y, and mitochondrial variants. Investigators also may seek to develop and validate new quality control and genotype calling procedures for these regions.

Researchers also may develop and validate new statistical or bioinformatics methods, analytical strategies, and study designs for incorporating information from these regions into GWAS analyses.

NHGRI's National Advisory Council for Human Genome Research last month opted not to fund a specific RFA for these projects because it was not deemed as a necessarily pressing matter, and because some X chromosome-focused studies are already in motion or are to be published in the near future.

At the NACHGR meeting, Teri Manolio, NHGRI's senior advisor to the director for population genomics, presented a proposal for funding an X chromosome-focused program with between $2 and $3 million.

New improvement in genotyping accuracy and new methods developed specifically for the X chromosome could facilitate improvements in detecting important genetic associations, according to the proposal. Although data on the X chromosome, Y, mitochondria, and structural variants may not be perfect, analyzing existing underutilized data in these regions could enhance discovery and further understanding of human disease at modest cost, she explained.

"Why exclude the X outright? There may be some interesting stuff there," Manolio said at the meeting.

Although the institute opted not to fund a specific RFA program to take up these X chromosome studies at this time, NHGRI is encouraging scientists interested in these areas to apply for R01, R21, and R03 Research Project Grants.

The Scan

Long COVID-19 Susceptibility Clues Contained in Blood Plasma Proteome

A longitudinal study in eBioMedicine found weeks-long blood plasma proteome shifts after SARS-CoV-2 infection, along with proteomic signatures that appeared to coincide with long Covid risk.

Tibetan Study Finds Adaptive Variant Influencing Skin Pigmentation

With a combination of phenotyping and genetic data, researchers document at PNAS a Tibetan-enriched enhancer variant influencing melanin synthesis and ultraviolet light response.

Domestication Linked to Nervous System Genes in Inbred Mouse Strains

Researchers highlighted more than 300 positively selected genes in domesticated mice, including genes linked to nervous system function or behavior in Genome Biology.

ALS Genetic Testing May Be Informative Across Age Ranges, Study Finds

Researchers in the journal Brain identified clinically actionable variants in a significant subset of older ALS patients, prompting them to point to the potential benefits of broader test use.