Bioinformatics & AI

Week of 27 October 2026

11 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►SpliceAI2 — reconstructs complete transcripts; in a rare disease cohort, predicted splice-altering variants account for 15% of the excess genetic burden, half of them deep intronic (preprint).
►CYP2D6 — CyriPanel genotypes hybrid alleles from capture panels with 88.8% concordance, versus 67.7% for Aldy 4 (preprint).
►Mahi-mahi — nanopore repeat expansion genotyping: same category as the referring laboratory for 98% of 180 clinical genotypes (preprint).
►AlphaGenome and SpliceAI2 — PP3/BP4 thresholds calibrated per non-coding variant class, dependent on the choice of controls (preprint).
►EpiSignaLR — long-read-derived episignatures: the SETD1B classifier correctly categorized 7 of 7 cases at two outside sites (preprint).

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Language model / AI

A unified framework for quantitative splicing and transcript prediction.

Splice-altering variants

Language model / AINew toolPathogenicity prediction

bioRxiv 2026· OctRead

Variant interpretation

A genomic foundation model for interpreting human genetic diversity

Variant interpretation

Variant interpretationNew toolBenchmark

bioRxiv 2026· OctRead

CyriPanel for CYP2D6 Genotyping from Targeted Capture Panels Using Assay-Matched Diploid References

CYP2D6 genotyping from capture panels

Algorithm benchmarkNew toolBenchmark

medRxiv 2026· OctRead

Accurate repeat expansion genotyping from whole-genome and real-time targeted nanopore sequencing with Mahi-mahi

Tandem repeat expansions

Long-readNew toolLong-read sequencing

medRxiv 2026· OctRead

Pathogenicity prediction

Calibration of AlphaGenome Variant Impact and SpliceAI2 scores as PP3/BP4 evidence for missense, non-coding, and synonymous variants

Variant classification (PP3/BP4 criteria)

Pathogenicity predictionPathogenicity predictionBenchmark

bioRxiv 2026· OctRead

EpiSignaLR: an open resource for genome-wide episignature analysis from methylation-aware short- and long-read sequencing

Methylation episignatures (Kabuki syndrome, Kleefstra syndrome, SETD1B-related NDD)

Long-readNew toolLong-read sequencing

medRxiv 2026· OctRead

The revised diploid genome sequence of an individual human: A workflow for near telomere-to-telomere assemblies using only Oxford Nanopore Technologies Simplex-reads.

Near telomere-to-telomere diploid genome assembly

Long-readLong-read sequencing

Proc Natl Acad Sci U S A 2026· OctRead

Pathogenicity prediction

AlphaGenome informed machine learning for pathogenicity prediction of germline mutations

Germline variant pathogenicity prediction

Pathogenicity predictionNew toolPathogenicity prediction

bioRxiv 2026· OctRead

Variant interpretation

MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains.

Missense variant interpretation

Variant interpretationPathogenicity prediction

bioRxiv 2026· AugRead

Small variant calling in the era of long-read sequencing.

Long-read small variant calling

Long-readLong-read sequencing

Nat Rev Genet 2026· OctRead

Structural variants

gVCF2CNV: a scalable pipeline for CNV detection from whole-genome sequencing data.

CNV detection from WGS

Structural variantsNew toolSV caller

bioRxiv 2026· SepRead

References and sources

Splice-altering variants. bioRxiv 2026. PMID 42926692. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42926692/
Variant interpretation. bioRxiv 2026. doi:10.64898/2026.10.19.760276. Score 6/10. https://www.biorxiv.org/content/10.64898/2026.10.19.760276v1
CYP2D6 — CYP2D6 genotyping from capture panels. medRxiv 2026. doi:10.64898/2026.10.23.26365897. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.10.23.26365897v1
Tandem repeat expansions. medRxiv 2026. doi:10.64898/2026.10.16.26365781. Score 5/10. https://www.medrxiv.org/content/10.64898/2026.10.16.26365781v1
Variant classification (PP3/BP4 criteria). bioRxiv 2026. doi:10.64898/2026.10.21.760715. Score 5/10. https://www.biorxiv.org/content/10.64898/2026.10.21.760715v1
Methylation episignatures (Kabuki syndrome, Kleefstra syndrome, SETD1B-related NDD). medRxiv 2026. doi:10.64898/2026.10.21.26366070. Score 5/10. https://www.medrxiv.org/content/10.64898/2026.10.21.26366070v1
Near telomere-to-telomere diploid genome assembly. Proc Natl Acad Sci U S A 2026. PMID 42912785. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42912785/
Germline variant pathogenicity prediction. bioRxiv 2026. doi:10.64898/2026.10.20.760593. Score 4/10. https://www.biorxiv.org/content/10.64898/2026.10.20.760593v1
Missense variant interpretation. bioRxiv 2026. PMID 42922776. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42922776/
Long-read small variant calling. Nat Rev Genet 2026. PMID 42902030. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42902030/
CNV detection from WGS. bioRxiv 2026. PMID 42922522. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42922522/

20 October 2026