Discover, rate, and discuss biology preprints.

MR-PRESSO detects pleiotropic outlier instruments in summary-level Mendelian randomization; across 82 traits it found pleiotropy in 41% of significant causal estimates, with distortions from −168% to 189%.

Seurat combines canonical correlation analysis and dynamic time warping to co-embed scRNA-seq datasets from different conditions, platforms, or species, outscoring ComBat and limma in alignment score.

Nanopore-only sequencing of GM12878 across 39 MinION flowcells (91.2 Gb) yielded an assembly with NG50 ∼3 Mb; adding 5× ultra-long reads raised NG50 to 6.4 Mbp.

A crude country-level model projects over 60 million patients will have healthcare-funded genome sequencing by 2025; the GA4GH authors separately give eight arguments for virtual cohorts of 100 million+.

Monocle 2 learns branched single-cell trajectories without supervision via reversed graph embedding, revealing a non-fusing myoblast outcome and knockout myeloid cells diverted onto opposite fate branches.

Sub-genic missense depletion in ExAC anchors MPC, a deleteriousness score; de novo missense variants with MPC ≥ 2 occur in neurodevelopmental cases at 5.79 times the control rate.

8-channel GemCode droplet barcoding captures ∼50% of loaded cells for 3′ mRNA counting, profiling 68k peripheral blood mononuclear cells and calling transplant chimerism from transcript variants.

Immunogenomic profiling of 8243 TCGA samples across 20 solid cancers yields an immune atlas and a random-forest-derived immunophenoscore stratifying melanoma responders to checkpoint blockade.