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Apes possess two sex chromosomes—the male-specific Y chromosome and the X chromosome, which is present in both males and females. The Y chromosome is crucial for male reproduction, with deletions being linked to infertility1. The X chromosome is vital for reproduction and cognition2. Variation in mating patterns and brain function among apes suggests corresponding differences in their sex chromosomes. However, owing to their repetitive nature and incomplete reference assemblies, ape sex chromosomes have been challenging to study. Here, using the methodology developed for the telomere-to-...

This article discusses the use of bioinformatics analysis for the longitudinal detection of circulatingtumor DNA.

Canadian researchers develop a cell-free DNA-based multimodal assay for early cancer detection in patients with Li-Fraumeni Syndrome, a high-cancer-risk condition. The assay outperforms conventional methods, promising more sensitive and less invasive cancer surveillance.

The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1–3. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5. Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of se...

[SPONSORED GUEST ARTICLE] International Supercomputing Conference (ISC) is an annual conference that showcases the key technologies in the supercomputing [...]