Adenine AI: Evidence For Genomic Medicine Powered By AI

Aggregated and new evidence added to Adenine AI

Evidence type	Total	YTD	Month
Case Reports	96,526	6,067	2,405
Case Series	181,346	8,973	3,242
Assay Reports	115,470	7,359	2,939
Somatic Fusions	17,690	1,228	350
Somatic Cohort	61,839	4,469	1,351

Articles we just added to the collection, straight from the latest literature.

Case Report

First diagnosis of familial partial lipodystrophy syndrome type 3 during pregnancy associated with a novel heterozygous PPARG variant and a concurrent ABCC8 variant: a case report.

2026 Frontiers in endocrinology PMID: 42440509

HGNC:9236 MONDO_0020088
Case Report

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy.

2026 BMC neurology PMID: 41851877

HGNC:7572
Case Series

Molecular basis of sarcomeric variants and the modifying role of non-sarcomeric genes in Sudden unexplained nocturnal death syndrome (SUNDS).

2026 The Journal of molecular diagnostics : JMD PMID: 42480850

HGNC:7551 HGNC:7577 HGNC:11947 HGNC:11949 HGNC:12010 MONDO_0015263
Case Series

DNAJC17 deficiency: A novel inborn error of immunity with TNF-driven autoinflammation.

2026 Frontiers in immunology PMID: 42495638

HGNC:25556 MONDO_0003778
Functional Assay

LMNA c.1609-3C >G is a French-Canadian Founder Variant With Age-Dependent Sequential Cardiac Abnormalities.

2026 The Canadian journal of cardiology PMID: 42486186

HGNC:6636
Functional Assay

INPP5K-related muscular dystrophy caused by a novel synonymous splicing variant in a Chinese patient: a case report.

2026 MedScience PMID: 42467360

HGNC:33882
Somatic Fusion

Polymorphous Low-Grade Neuroepithelial Tumor of the Young (PLNTY): A Rare Entity.

2026 Annals of clinical and laboratory science PMID: 42492969

HGNC:3689 HGNC:29319 MONDO_0858959 MONDO_0021637
Somatic Fusion

Acquired BRAF-AGK Fusion Following Osimertinib Plus Savolitinib in EGFR-Mutated MET-Amplified Non-Small-Cell Lung Cancer: Durable Response to Gefitinib and Trametinib in a Case Report.

2026 OncoTargets and therapy PMID: 42267361

HGNC:1097 HGNC:21869
Somatic Cohort

Undifferentiated and Dedifferentiated Melanoma of the Genitourinary Tract: A Case Series Demonstrating the Potential for Diagnostic Pitfalls.

2026 International journal of surgical pathology PMID: 42484487

HGNC:1097 HGNC:7989 HGNC:7765 HGNC:11730 HGNC:1787 HGNC:11998 MONDO_0021511 MONDO_0002513
Somatic Cohort

Clinicopathologic features of KRAS G12C-mutated non-small cell lung carcinomas:insights from 279 retrospective cases.

2026 Virchows Archiv : an international journal of pathology PMID: 41986521

HGNC:6407 HGNC:11998 HGNC:11389 HGNC:8975 HGNC:2514 HGNC:7029 MONDO_0005233