Eric S. Lander

This study identifies a therapeutic target, the entrapment complex, that clears toxic protein accumulation in distinct proteinopathies by disrupting a cargo receptor complex.

This study functionally characterizes 221,412 trait-associated variants using MPRA in 5 cell types, identifying 12,025 regulatory variants and revealing widespread epistasis and non-TF mechanisms.

This study shows PD-1 blockade during T cell priming promotes an intermediate-exhausted CD8 T cell state that supports durable anti-tumor immunity after surgery and metastatic challenge, better than effector or memory-like T cells.

The paper introduces Variant-FlowFISH to measure the effects of DNA sequence variants on gene expression, identifies regulatory mechanisms, and benchmarks predictive models.

The paper identifies TF-sensitive chromatin regions as highly enriched for heritability of blood cell phenotypes, using a novel single-cell multi-omics approach.

This paper detects widespread directional selection in ancient DNA data, identifying 347 genome-wide significant loci and linking them to traits like body fat, skin color, and cognitive performance.

This study uses CRUDO to show that cohesin and 3D contacts influence enhancer-promoter regulation, with distal enhancers showing stronger cohesin dependence.

This paper reports the 3D genome architecture of a 52,000-year-old woolly mammoth using a novel method, revealing conserved epigenetic features across elephantids.

The paper analyzes GWAS data for 27 traits to test evolutionary models, finding most traits are consistent with stabilizing selection rather than neutral evolution or directional selection.

The paper introduces LD graphical models (LDGMs) for efficient linkage disequilibrium representation in diverse ancestry studies, showing significant runtime improvements and better polygenic prediction.

The paper introduces a method to prioritize causal genes for complex traits by integrating GWAS data with gene expression and biological data, achieving high precision in gene-trait pair identification.

The paper maps coronary artery disease risk loci to endothelial cell gene programs, identifying convergence on the CCM pathway and a new CAD gene, TLNRD1.

The paper introduces dynamo, a framework for estimating RNA velocities and predicting cell fates using single-cell RNA-seq data, applied to various biological processes.

The paper measures enhancer-promoter compatibility in human cells using a high-throughput assay, finding a multiplicative model with some class-specific preferences.

This study shows that Mct11 deficiency in mice disrupts hepatic glucose and lipid metabolism, mirroring T2D features, and identifies MCT11 as a potential therapeutic target for T2D.

HyPR-seq sensitively quantifies up to 100 chosen genes in single cells, achieving high sensitivity for individual transcripts and reducing costs compared to whole-transcriptome scRNA-seq.

The paper introduces CISI, a method that uses compressed sensing to efficiently recover spatial gene expression data from composite measurements, achieving high efficiency and scalability.

The paper uses the ABC Model to map enhancer-gene regulation across 131 cell types and tissues, linking GWAS variants to disease genes, particularly in IBD.

The paper examines how polygenic risk modifies the penetrance of monogenic variants in coronary artery disease, breast cancer, and colorectal cancer across multiple cohorts.

This study identifies novel cancer driver genes by analyzing mutation nucleotide contexts in whole-exome sequencing data from 12,004 tumors.

The paper introduces CRISPRi-FlowFISH to perturb enhancers and an Activity-by-Contact model to predict enhancer-gene regulatory connections.

The paper maps and characterizes structural variants in 17,795 human genomes, revealing their frequency, impact, and relationship to gene dosage and regulatory elements.

The paper introduces Hi-Culfite, a method combining Hi-C and WGBS to study chromatin contacts and DNA methylation together, revealing context-sensitive methylation patterns.

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.

CRISPR-SURF deconvolves CRISPR tiling screen data to identify functional regulatory elements across CRISPR-Cas, CRISPRi, and CRISPRa experiments.

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

A genome-wide polygenic score identifies individuals with a 4-fold increased risk for coronary disease, similar to a rare monogenic mutation.

This paper introduces composite measurements and molecular compressed sensing to efficiently recover gene expression profiles with fewer measurements than genes.

This study shows that cohesin loss eliminates loop domains, causing superenhancer links and gene downregulation, which are reversible upon cohesin restoration.

Optimal transport converts a 65,781-cell reprogramming time course into probabilistic fates and trajectories, exposing alternative cell fates and a gene, Obox6, that improves reprogramming efficiency.