Nature Communications reports that current human gene maps are European-leaning because most data come from European DNA, leaving transcripts from Africa, Asia, and the Americas underrepresented.

A broader analysis in Nature Communications confirms the European bias in gene maps due to data demographics, highlighting underrepresentation of non-European populations.

Limitations include analyzing only one cell type from a single tissue and a small sample, making findings preliminary and emphasizing the need for broader, inclusive follow-up.

With 43 individuals and incomplete global ancestry coverage, the work is a foundational step toward a more inclusive map of human biology.

Researchers identified about 41,000 transcripts not present in official GENCODE maps, with roughly 41% of transcripts from known protein-coding genes likely encoding alternate protein variants.

Long-read RNA sequencing of blood cells from 43 individuals across eight populations revealed these missing transcripts, suggesting substantial undiscovered protein diversity.

Expanding references to include diverse populations could improve genomic medicine by revealing ancestry-specific biology and refining disease risk assessments.

Non-European populations harbor many population-specific transcripts, including 2,267 new transcripts and 773 from previously unrecognized gene loci, pointing to undiscovered genetic regions.

In particular, non-European groups show substantially more unseen transcripts than European groups, illustrating the breadth of undiscovered biology beyond Europe.

An example is the SUB1 gene where Peruvian ancestry individuals exhibit a different transcript and altered protein not reflected in current annotations.

The study calls for a human pantranscriptome alongside the pan-genome to capture tissue-specific and population-specific gene usage, urging global collaboration and data sharing.

Ultimately, a broader pantranscriptome and pan-genome approach is needed to accurately reflect human diversity across tissues, life stages, and populations.

Personal DNA references uncover hundreds more transcripts per person, with the greatest gains in individuals of African ancestry, showing that a single universal reference genome hides meaningful variation in how genes are used.

Incorporating individual-specific references reveals extensive transcript diversity, underscoring that a universal genome mask limits understanding of gene usage across populations.

The overall takeaway is that a truly inclusive map of human biology requires integrating diverse populations and building a comprehensive pantranscriptome to accompany the pan-genome for fairer, more accurate genomic medicine.

The effort to map the pantranscriptome scales massively, using 10 terabytes of data and 800 million full-length RNA sequences analyzed on high-performance computing resources at MareNostrum 5.