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A China multicenter, couple-based expanded carrier screening study (2,010 couples) suggests that rigid carrier frequency thresholds may underestimate reproductive risks. Using a 1,736-gene panel, the study identified population-specific carrier patterns and more high-risk couples. Findings support broader, severity-focused, concurrent couple-based screening to improve rare disease prevention and informed reproductive decision-making.

We have returned from PacBio PRISM 2026 in Fukuoka, where our team joined Dr. Aiping Mao, Head of R&D at Berry Genomics, and Dr Bo Wang, leader from Haorui Genomics, for an inspiring event with leaders, partners, and innovators from across the PacBio ecosystem.

We are excited to announce that the Xcelom team, together with our parent company Berry Genomics and our partner Haorui Genomics, will be at PacBio Prism 2026.

How Long-Read Sequencing resolves the CYP21A2-TNXB highly homologous pseudogene challenge and enhances first-tier screening. Introduction: The Evolution of Newborn Screening Compared to traditional biochemical assays, Genetic Newborn Screening (NBS) offers a distinct advantage: clearer results, reduced unnecessary follow-up, and the ability to detect conditions that lack early-stage biochemical markers. Thanks to advancements in sequencing technology, laboratories can now scr