{"record_type":"pith_number_record","schema_url":"https://pith.science/schemas/pith-number/v1.json","pith_number":"pith:2026:SNWX7ASBT5IWJKSQDFW7N2SSFC","short_pith_number":"pith:SNWX7ASB","schema_version":"1.0","canonical_sha256":"936d7f82419f5164aa50196df6ea522883ac78032e819e3c6ad105eba14130a8","source":{"kind":"arxiv","id":"2606.24779","version":1},"attestation_state":"computed","paper":{"title":"DeepBD: A Grounded Agentic Workflow for Variant Prioritization and Diagnosis of Genetic Birth Defects","license":"http://arxiv.org/licenses/nonexclusive-distrib/1.0/","headline":"","cross_cats":["cs.AI"],"primary_cat":"q-bio.GN","authors_text":"Genjie Li, Haishuai Wang, Jiajun Bu, Jiajun Yu, Jielong Lu, Shiyu Li, Weiran Liao, Zeyu Chu, Zhihao Wu, Ziqi Yan","submitted_at":"2026-06-23T16:37:48Z","abstract_excerpt":"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 validity, phenotype ontologies, cellular and pathway context, protein structure and clinical literature. We present DeepBD, a grounded agentic workflow for v"},"verification_status":{"content_addressed":true,"pith_receipt":true,"author_attested":false,"weak_author_claims":0,"strong_author_claims":0,"externally_anchored":false,"storage_verified":false,"citation_signatures":0,"replication_records":0,"graph_snapshot":true,"references_resolved":false,"formal_links_present":false},"canonical_record":{"source":{"id":"2606.24779","kind":"arxiv","version":1},"metadata":{"license":"http://arxiv.org/licenses/nonexclusive-distrib/1.0/","primary_cat":"q-bio.GN","submitted_at":"2026-06-23T16:37:48Z","cross_cats_sorted":["cs.AI"],"title_canon_sha256":"12cc7d51bfdb6be533bb6c532970808c39ae95b3d9331fb203379777cca73ca0","abstract_canon_sha256":"ff021b48fb83fbc77f93ab2f3c49cae44a02e3f863b554349405f4ef05f1d46e"},"schema_version":"1.0"},"receipt":{"kind":"pith_receipt","key_id":"pith-v1-2026-05","algorithm":"ed25519","signed_at":"2026-06-24T01:15:42.061759Z","signature_b64":"5kB1Sw1ZhFYuos2QulObK2Qh88cueK4uJ9t9GIjwBgl4DgQ1eKvuQPn4j/cbbmqlRQWJR7S0ThN0EvcpteGVCw==","signed_message":"canonical_sha256_bytes","builder_version":"pith-number-builder-2026-05-17-v1","receipt_version":"0.3","canonical_sha256":"936d7f82419f5164aa50196df6ea522883ac78032e819e3c6ad105eba14130a8","last_reissued_at":"2026-06-24T01:15:42.061354Z","signature_status":"signed_v1","first_computed_at":"2026-06-24T01:15:42.061354Z","public_key_fingerprint":"8d4b5ee74e4693bcd1df2446408b0d54"},"graph_snapshot":{"paper":{"title":"DeepBD: A Grounded Agentic Workflow for Variant Prioritization and Diagnosis of Genetic Birth Defects","license":"http://arxiv.org/licenses/nonexclusive-distrib/1.0/","headline":"","cross_cats":["cs.AI"],"primary_cat":"q-bio.GN","authors_text":"Genjie Li, Haishuai Wang, Jiajun Bu, Jiajun Yu, Jielong Lu, Shiyu Li, Weiran Liao, Zeyu Chu, Zhihao Wu, Ziqi Yan","submitted_at":"2026-06-23T16:37:48Z","abstract_excerpt":"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 validity, phenotype ontologies, cellular and pathway context, protein structure and clinical literature. We present DeepBD, a grounded agentic workflow for v"},"claims":{"count":0,"items":[],"snapshot_sha256":"258153158e38e3291e3d48162225fcdb2d5a3ed65a07baac614ab91432fd4f57"},"source":{"id":"2606.24779","kind":"arxiv","version":1},"verdict":{"id":null,"model_set":{},"created_at":null,"strongest_claim":"","one_line_summary":"","pipeline_version":null,"weakest_assumption":"","pith_extraction_headline":""},"integrity":{"clean":true,"summary":{"advisory":0,"critical":0,"by_detector":{},"informational":0},"endpoint":"/pith/2606.24779/integrity.json","findings":[],"available":true,"detectors_run":[],"snapshot_sha256":"c28c3603d3b5d939e8dc4c7e95fa8dfce3d595e45f758748cecf8e644a296938"},"references":{"count":0,"sample":[],"resolved_work":0,"snapshot_sha256":"258153158e38e3291e3d48162225fcdb2d5a3ed65a07baac614ab91432fd4f57","internal_anchors":0},"formal_canon":{"evidence_count":0,"snapshot_sha256":"258153158e38e3291e3d48162225fcdb2d5a3ed65a07baac614ab91432fd4f57"},"author_claims":{"count":0,"strong_count":0,"snapshot_sha256":"258153158e38e3291e3d48162225fcdb2d5a3ed65a07baac614ab91432fd4f57"},"builder_version":"pith-number-builder-2026-05-17-v1"},"aliases":[{"alias_kind":"arxiv","alias_value":"2606.24779","created_at":"2026-06-24T01:15:42.061418+00:00"},{"alias_kind":"arxiv_version","alias_value":"2606.24779v1","created_at":"2026-06-24T01:15:42.061418+00:00"},{"alias_kind":"doi","alias_value":"10.48550/arxiv.2606.24779","created_at":"2026-06-24T01:15:42.061418+00:00"},{"alias_kind":"pith_short_12","alias_value":"SNWX7ASBT5IW","created_at":"2026-06-24T01:15:42.061418+00:00"},{"alias_kind":"pith_short_16","alias_value":"SNWX7ASBT5IWJKSQ","created_at":"2026-06-24T01:15:42.061418+00:00"},{"alias_kind":"pith_short_8","alias_value":"SNWX7ASB","created_at":"2026-06-24T01:15:42.061418+00:00"}],"events":[],"event_summary":{},"paper_claims":[],"inbound_citations":{"count":0,"internal_anchor_count":0,"sample":[]},"formal_canon":{"evidence_count":0,"sample":[],"anchors":[]},"links":{"html":"https://pith.science/pith/SNWX7ASBT5IWJKSQDFW7N2SSFC","json":"https://pith.science/pith/SNWX7ASBT5IWJKSQDFW7N2SSFC.json","graph_json":"https://pith.science/api/pith-number/SNWX7ASBT5IWJKSQDFW7N2SSFC/graph.json","events_json":"https://pith.science/api/pith-number/SNWX7ASBT5IWJKSQDFW7N2SSFC/events.json","paper":"https://pith.science/paper/SNWX7ASB"},"agent_actions":{"view_html":"https://pith.science/pith/SNWX7ASBT5IWJKSQDFW7N2SSFC","download_json":"https://pith.science/pith/SNWX7ASBT5IWJKSQDFW7N2SSFC.json","view_paper":"https://pith.science/paper/SNWX7ASB","resolve_alias":"https://pith.science/api/pith-number/resolve?arxiv=2606.24779&json=true","fetch_graph":"https://pith.science/api/pith-number/SNWX7ASBT5IWJKSQDFW7N2SSFC/graph.json","fetch_events":"https://pith.science/api/pith-number/SNWX7ASBT5IWJKSQDFW7N2SSFC/events.json","actions":{"anchor_timestamp":"https://pith.science/pith/SNWX7ASBT5IWJKSQDFW7N2SSFC/action/timestamp_anchor","attest_storage":"https://pith.science/pith/SNWX7ASBT5IWJKSQDFW7N2SSFC/action/storage_attestation","attest_author":"https://pith.science/pith/SNWX7ASBT5IWJKSQDFW7N2SSFC/action/author_attestation","sign_citation":"https://pith.science/pith/SNWX7ASBT5IWJKSQDFW7N2SSFC/action/citation_signature","submit_replication":"https://pith.science/pith/SNWX7ASBT5IWJKSQDFW7N2SSFC/action/replication_record"}},"created_at":"2026-06-24T01:15:42.061418+00:00","updated_at":"2026-06-24T01:15:42.061418+00:00"}