Genome medicine

01 18 October 2026

DOI 10.1186/s13073-026-01799-4

Combining MAVEs and computational predictors improves variant classification across ancestries in hereditary cancer genes

Open DOI

Nikita Bora, Mihaly Badonyi, Ankit K. Pathak et al.

02 17 October 2026

DOI 10.1186/s13073-026-01800-0

Development and validation of a trans‑ancestry polygenic risk score for coronary artery disease in the chinese population

Open DOI

Junting He, Songchun Yang, Qingmei Cui et al.

03 17 October 2026

DOI 10.1186/s13073-026-01803-x

Longitudinal single-cell and spatial profiling of sonic hedgehog medulloblastoma identifies novel therapeutic targets

Open DOI

Abhinav Jain, Bohyeon Yu, Jangham Jung et al.

Background: Sonic hedgehog (SHH) medulloblastoma (MB) accounts for approximately one-third of all MB cases, the most common malignant brain tumor in children. Despite therapy, SHH MB relapse is frequent and has a dismal prognosis. New tr...

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04 17 October 2026

DOI 10.1186/s13073-026-01788-7

Charting brain structure in 22q11.2 deletion syndrome with clinical neuroimaging

Open DOI

Benjamin Jung, J. Eric Schmitt, Jakob Seidlitz et al.

Background: 22q11.2 deletion syndrome (22q11DS) is a common microdeletion associated with widespread brain alterations and elevated risk for schizophrenia and other neuropsychiatric conditions. Prospective research studies often exclude ...

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05 16 October 2026

DOI 10.1186/s13073-026-01787-8

Variant classification challenges in genes associated with multiple disorders contribute to the persistent interlaboratory discordance

Open DOI

Kuo Zhang, Jinli Li, Wei Wang et al.

Background: Accurate germline variant classification requires correct application of ACMG/AMP evidence criteria and assignment of pathogenicity to a specific disease entity and mode of inheritance. Whether laboratories apply this disease...

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06 15 October 2026

DOI 10.1186/s13073-026-01793-w

Decoding coupled epigenetic-fragmentomic signals in circulating cell-free DNA for interpretable cancer diagnosis

Open DOI

Yunze Wang, Yuying Hou, Xinyu Liu et al.

Plasma cell-free DNA (cfDNA) whole-genome methylation sequencing enables simultaneous characterization of DNA methylation and fragmentomic features for cancer detection. However, it remains unclear whether methylation library preparation...

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07 15 October 2026

DOI 10.1186/s13073-026-01779-8

Early NOTCH1 mutation is positively selected but epistatically suppresses evolution of later esophageal squamous-cell carcinoma drivers

Open DOI

Kira A. Glasmacher, Jeffrey D. Mandell, Mia Jackson et al.

Background: Somatic mutations commonly accumulate in histologically normal tissues and contribute to cancer development. However, many mutations that are common in normal tissue are also found in cancers from the same organ, making their...

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08 14 October 2026

DOI 10.1186/s13073-026-01801-z

Survival and causes of death in primary mitochondrial diseases

Open DOI

Katherine R. Schon, Jeanette Aston, Peter Stilwell et al.

Background: Primary mitochondrial diseases affect 1 in 4300 livebirths and cause early death or lifelong disability but our understanding of their impact on survival and causes of death is limited. There is conflicting evidence about whe...

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09 13 October 2026

DOI 10.1186/s13073-026-01789-6

Emergence of locally transmitting and drug-resistant clones shapes global expansion of Mycobacterium tuberculosis Lineage 3

Open DOI

Chendi Zhu, Mingxing Ni, Minghua Mo et al.

10 11 October 2026

DOI 10.1186/s13073-026-01795-8

Senescent cancer-associated fibroblasts secrete Tenascin-C to promote tumor progression in high-grade serous ovarian cancer

Open DOI

Runrong Li, Yue Chen, Xizhan Huang et al.