q-bio.GN · 2026-06-24 · No. 33

Genomics, 2026-06-24.

1 new papers in q-bio.GN. Titles, authors, abstracts. Links to arXiv. Want this in your inbox every morning? Subscribe →

01 — The papers

1 entries
  1. 01

    DeepBD: A Grounded Agentic Workflow for Variant Prioritization and Diagnosis of Genetic Birth Defects

    Shiyu Li, Ziqi Yan, Zhihao Wu, Jielong Lu, Weiran Liao, Jiajun Yu, Genjie Li, Zeyu Chu, Jiajun Bu, Haishuai Wang

    q-bio.GN · cs.AI

    Birth defects are a major cause of fetal loss, neonatal morbidity and long-term disability. In the subset with suspected genetic etiologies, exome and genome sequencing have moved many cases from variant detection to post-sequencing interpretation: clinicians must rank patient-specific candidate variants under incomplete fetal or infant phenotypes and heterogeneous evidence from population genetics, variant-effect prediction, gene-disease...

    arxiv.org/abs/2606.24779 · PDF

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