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Bioinformatics & AI
Week of 14 July 2026
7 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►FlowXAI — self-explaining AI for B cell lymphoma classification, data-efficient and reporting its own trustworthiness.
- ►DDD-Africa — CNV detection integrated into exome adds 8.1% diagnostic yield at no extra cost.
- ►MYBPC3 — multidimensional MAVE in iPSC cardiomyocytes enabling variant reclassification in hypertrophic cardiomyopathy.
- ►synpact — open-source PacBio HiFi mapper using 5-13x less memory than minimap2 at comparable accuracy.
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B cell non-Hodgkin lymphoma
PubMed★ Top pick
Self-explaining artificial intelligence for the classification of B cell non-Hodgkin lymphoma: A diagnostic decision support study.
B cell non-Hodgkin lymphoma
0
New toolBenchmark
PLoS Med 2026· JulRead
Clinical pipeline
PubMed★ Top pick
Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.
Developmental disorders
0
Clinical pipelineClinical pipelineSV caller
Eur J Hum Genet 2026· JulRead
MYBPC3
PubMedScaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.
Hypertrophic cardiomyopathy
0
Long-readPathogenicity predictionLong-read sequencing
Circulation 2026· JulRead
Structural variant interpretation
bioRxivCoordinate- and Sequence-Based Features for a new Combined Annotation-Dependent Depletion Framework of Structural Variants (CADD-SV v2.0)
Structural variant interpretation
0
New toolPathogenicity prediction
bioRxiv 2026· JulRead
Algorithm benchmark
PubMedA systematic benchmark of bioinformatics methods for single-cell and spatial RNA-seq nanopore long reads data.
Single-cell and spatial transcriptomics
0
Algorithm benchmarkBenchmarkLong-read sequencing
NAR Genom Bioinform 2026· JulRead
Long-read
bioRxivsynpact: accurate, memory-light PacBio HiFi read mapping via a hierarchy of locally-consistent syncmer blocks
Long-read read mapping
0
Long-readNew toolLong-read sequencing
bioRxiv 2026· JulRead
Genomic sequencing — equitable access
PubMedA blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.
Genomic sequencing — equitable access
0
New toolClinical pipeline
Nat Genet 2026· JulRead
References and sources
- B cell non-Hodgkin lymphoma. PLoS Med 2026. PMID 42441729. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42441729/
- Developmental disorders. Eur J Hum Genet 2026. PMID 42426152. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42426152/
- MYBPC3 — Hypertrophic cardiomyopathy. Circulation 2026. PMID 42437345. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42437345/
- Structural variant interpretation. bioRxiv 2026. doi:10.64898/2026.07.08.736040. Score 7/10. https://www.biorxiv.org/content/10.64898/2026.07.08.736040v1
- Single-cell and spatial transcriptomics. NAR Genom Bioinform 2026. PMID 42441075. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42441075/
- Long-read read mapping. bioRxiv 2026. doi:10.64898/2026.06.28.735066. Score 7/10. https://www.biorxiv.org/content/10.64898/2026.06.28.735066v1
- Genomic sequencing — equitable access. Nat Genet 2026. PMID 42420521. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42420521/
