Kristian Cibulskis
Broad Institute
Public scientific profile · Unclaimed
Built from public scholarly sources. Expertise is inferred by ScienceWe from publications and has not been confirmed by the scientist.
Top expertise
Genomics and Rare Diseases
Strong evidence · 2 supporting papers · latest 2025
Cancer Genomics and Diagnostics
Strong evidence · 4 supporting papers · latest 2026
Genomic variations and chromosomal abnormalities
Solid evidence · 1 supporting paper · latest 2023
Molecular Biology Techniques and Applications
Solid evidence · 1 supporting paper · latest 2025
Cancer-related molecular mechanisms research
Solid evidence · 1 supporting paper · latest 2025
Genetic Associations and Epidemiology
Solid evidence · 2 supporting papers · latest 2026
Genomics and Phylogenetic Studies
Solid evidence · 1 supporting paper · latest 2025
Lung Cancer Treatments and Mutations
Solid evidence · 2 supporting papers · latest 2026
Publications (13)
Inferring compound heterozygosity from large-scale exome sequencing data
2023DOIPMID 38057443
Accelerating scRNA-seq Analysis: Automated cell type annotation using representation learning and vector search
2025DOIPMID 41279915
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
2025DOIPMID 41173899
A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations
2026DOI
Plasma epigenomic profiling for identification of mechanisms of sensitivity, primary and acquired resistance to tepotinib in METex14 skipping metastatic NSCLC.
2026DOI
Comprehensive epigenomic profiling of plasma for non-invasive detection of MET activation to uncover MET-associated biology in patients with EGFR -mutated advanced NSCLC and progression on osimertinib.
2026DOI
2783P Comprehensive epigenomic profiling of plasma ctDNA enables drug target expression in SCLC
2025DOI
Abstract 7821: Plasma-based comprehensive epigenomic profiling enables multiplexed prediction of target gene expression and detection of resistance mechanisms.
2026DOI
Abstract 1020: Characterization of functional estrogen receptor (ER) dependence via comprehensive epigenomic liquid biopsy stratifies endocrine therapy (ET) responders with metastatic breast cancer (MBC)
2026DOI
Abstract 2606: A liquid biopsy assay of estrogen receptor activity predicts response to giredestrant in ER+/HER2− advanced breast cancer
2026DOI
Comprehensive plasma-based epigenomic profiling from INTR@PID Lung 037 study samples to identify pathways associated with response and resistance to pembrolizumab in PD-L1–high NSCLC.
2026DOI
Abstract PS9-07: Epigenomic Characterization of ER Transcriptional Activation via Liquid Biopsy
2025DOI
Abstract 963: Comprehensive epigenomic profiling from plasma to inform therapy selection: A proof-of-concept study in cancer
2024DOI
Organizations in sourced records
Affiliation evidence only — not confirmed current employment.
- Broad Institute
Source: OpenAlex · retrieved 2026-09-29