Publications

2025

  • Uncovering Functional Sequence Gaps in Human Reference Genomes using African Pan Genome Contig Sequences

    Martini R, Tijjani A, Founta K, Cha D, Maurice S, White JA, Balogun O, Davis MB, Chambwe N. bioRxiv [Preprint].

    https://doi.org/10.1101/2025.08.15.670543

  • Paired plus-minus sequencing is an ultra-high throughput and accurate method for dual strand sequencing of DNA molecules

    Cheng AP, Rusinek I, Sossin A, Widman AJ, Meiri E, Krieger G, Hirschberg O, Tov DS, Gilad S, Jaimovich A, Barad O, Avaylon S, Rajagopalan S, Potenski C, Prieto T, Yuan DJ, Furatero R, Runnels A, Costa BM, Shoag JE, Assaad MA, Sigouros M, Manohar J, King A, Wilkes D, Otilano J, Malbari MS, Elemento O, Mosquera JM, Altorki NK, Saxena A, Callahan MK, Robine N, Germer S, Evrony GD, Faltas BM, Landau DA. bioRxiv [Preprint].

    https://doi.org/10.1101/2025.08.11.669689

  • Perplexity as a Metric for Isoform Diversity in the Human Transcriptome

    Schertzer MD, Park SH, Su J, Sheynkman GM, Knowles DA. bioRxiv [Preprint].

    https://doi.org/10.1101/2025.07.02.662769

  • Towards Identifiability of Interventional Stochastic Differential Equations

    Zweig A, Lin Z, Azizi E, Knowles DA. arXiv [Preprint].

    https://doi.org/10.48550/arXiv.2505.15987

  • pC-SAC: Method for High-Resolution 3D Genome Reconstruction from Low-Resolution Hi-C Data

    Angel JC, Amraoui NE, Gürsoy G. Nucleic Acids Research.

    https://doi.org/10.1093/nar/gkaf289

  • Error-corrected flow-based sequencing at whole-genome scale and its application to circulating cell-free DNA profiling

    Cheng AP, Widman AJ, Arora A, Rusinek I, Sossin A, Rajagopalan S, Midler N, Hooper WF, Murray RM, Halmos D, Langanay T, Chu H, Inghirami G, Potenski C, Germer S, Marton M, Manaa D, Helland A, Furatero R, McClintock J, Winterkorn L, Steinsnyder Z, Wang Y, Alimohamed AI, Malbari MS, Saxena A, Callahan MK, Frederick DT, Spain L, Sigouros M, Manohar J, King A, Wilkes D, Otilano J, Elemento O, Mosquera JM, Jaimovich A, Lipson D, Turajlic S, Zody MC, Altorki NK, Wolchok JD, Postow MA, Robine N, Faltas BM, Boland G, Landau DA. Nature Methods.

    https://doi.org/10.1038/s41592-025-02648-9

  • Single-cell parallel analysis of DNA damage and transcriptome reveals selective genome vulnerability

    Bai D, Cao Z, Attada N, Song J, Zhu C. Nature Methods.

    https://doi.org/10.1038/s41592-025-02632-3

  • ScatTR: Estimating the Size of Long Tandem Repeat Expansions from Short-Reads

    Al-Abri R, Gürsoy G. bioRxiv [Preprint].

    https://doi.org/10.1101/2025.02.15.638440

  • Comprehensive dissection of cis-regulatory elements in a 2.8 Mb topologically associated domain in six human cancers

    Caragine CM, Le VT, Mustafa M, Diaz BJ, Morris JA, Müller S, Mendez-Mancilla A, Geller E, Liscovitch-Brauer N, Sanjana NE. Nature Communications.

    https://doi.org/10.1038/s41467-025-56568-5

  • Precise RNA targeting with CRISPR-Cas13d

    Hart SK, Müller S, Wessels HH, Méndez-Mancilla A, Drabavicius G, Choi O, Sanjana NE. Nature Biotechnology.

    https://doi.org/10.1038/s41587-025-02558-3

  • Interpretable Neural ODEs for Gene Regulatory Network Discovery under Perturbations

    Lin Z, Chang S, Zweig A, Kang M, Azizi, E, Knowles DA. arXiv [Preprint].


    https://doi.org/10.48550/arXiv.2501.02409

  • Single-cell mapping of regulatory DNA:Protein interactions

    Chi WY, Yoon SH, Mekerishvili L, Ganesan S, Potenski C, Izzo F, Landau D, Raimondi I. bioRxiv [Preprint].

    https://doi.org/10.1101/2024.12.31.630903

2024

  • Transcriptome-scale RNA-targeting CRISPR screens reveal essential lncRNAs in human cells

    Liang WW, Müller S, Hart SK, Wessels HH, Méndez-Mancilla A, Sookdeo A, Choi O, Caragine CM, Corman A, Lu L, Kolumba O, Williams B, Sanjana NE. Cell.

    https://doi.org/10.1016/j.cell.2024.10.021

  • Paired CRISPR screens to map gene regulation in cis and trans

    Xue X, Gajic ZZ, Caragine CM, Legut M, Walker C, Kim JYS, Wang X, Yan RE, Wessels HH, Lu C, Bapodra N, Gürsoy G, Sanjana NE. bioRxiv [Preprint].

    https://doi.org/10.1101/2024.11.27.625752

  • Pooled CRISPR screens with joint single-nucleus chromatin accessibility and transcriptome profiling

    Yan RE, Corman A, Katgara L, Wang X, Xue X, Gajic ZZ, Sam R, Farid M, Friedman SM, Choo J, Raimondi I, Ganesan S, Katsevich E, Greenfield JP, Dahmane N, Sanjana NE. Nature Biotechnology.

    https://doi.org/10.1038/s41587-024-02475-x

  • A Bayesian framework for inferring dynamic intercellular interactions from time-series single-cell data

    Park C, Mani S, Beltran-Velez N, Maurer K, Huang T, Li S, Gohil S, Livak KJ, Knowles DA, Wu CJ, Azizi E. Genome Research.

    https://doi.org/10.1101/gr.279126.124

  • Single-cell genotype-phenotype mapping identifies therapeutic vulnerabilities in VEXAS syndrome

    Ganesan S, Murray RM, Sotelo J, Eton EO, Takashima K, Botella T, Beattie K, Indart AC, Chraiki N, Croizier C, Izzo F, Potenski C, Marro S, Wu Z, Gao S, Young NS, Blair JD, Satija R, Terrier B, Heiblig M, Papapetrou EP, Sujobert P, Kosmider O, Beck DB, Landau DA. bioRxiv [Preprint].

    https://doi.org/10.1101/2024.05.19.594376

  • Defining heritability, plasticity, and transition dynamics of cellular phenotypes in somatic evolution

    Schiffman JS, D'Avino AR, Prieto T, Pang Y, Fan Y, Rajagopalan S, Potenski C, Hara T, Suvà ML, Gawad C, Landau DA. Nature Genetics.

    https://doi.org/10.1038/s41588-024-01920-6

  • Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment

    Widman AJ, Shah M, Frydendahl A, Halmos D, Khamnei CC, Øgaard N, Rajagopalan S, Arora A, Deshpande A, Hooper WF, Quentin J, Bass J, Zhang M, Langanay T, Andersen L, Steinsnyder Z, Liao W, Rasmussen MH, Henriksen TV, Jensen SØ, Nors J, Therkildsen C, Sotelo J, Brand R, Schiffman JS, Shah RH, Cheng AP, Maher C, Spain L, Krause K, Frederick DT, den Brok W, Lohrisch C, Shenkier T, Simmons C, Villa D, Mungall AJ, Moore R, Zaikova E, Cerda V, Kong E, Lai D, Malbari MS, Marton M, Manaa D, Winterkorn L, Gelmon K, Callahan MK, Boland G, Potenski C, Wolchok JD, Saxena A, Turajlic S, Imielinski M, Berger MF, Aparicio S, Altorki NK, Postow MA, Robine N, Andersen CL, Landau DA. Nature Medicine.

    https://doi.org/10.1038/s41591-024-03040-4

  • Genotype-to-phenotype mapping of somatic clonal mosaicism via single-cell co-capture of DNA mutations and mRNA transcripts

    Yuan DJ, Zinno J, Botella T, Dhingra D, Wang S, Hawkins A, Swett A, Sotelo J, Raviram R, Hughes C, Potenski C, Yokoyama A, Kakiuchi N, Ogawa S, Landau DA. bioRxiv [Preprint].

    https://doi.org/10.1101/2024.05.22.595241

  • Disentangling oncogenic amplicons in esophageal adenocarcinoma

    Ng AWT, McClurg DP, Wesley B, Zamani SA, Black E, Miremadi A, Giger O, Hoopen RT, Devonshire G, Redmond AM, Grehan N, Jammula S, Blasko A, Li X, Aparicio S, Tavaré S; Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium; Nowicki-Osuch K, Fitzgerald RC. Nature Communications.

    https://doi.org/10.1038/s41467-024-47619-4

  • Low copy CRISPR-Cas13d mitigates collateral RNA cleavage

    Hart SK, Wessels HH, Méndez-Mancilla A, Müller S, Drabavicius G, Choi O, Sanjana NE. bioRxiv [Preprint]

    https://doi.org/10.1101/2024.05.13.594039

  • Mapping genotypes to chromatin accessibility profiles in single cells

    Izzo F, Myers RM, Ganesan S, Mekerishvili L, Kottapalli S, Prieto T, Eton EO, Botella T, Dunbar AJ, Bowman RL, Sotelo J, Potenski C, Mimitou EP, Stahl M, El Ghaity-Beckley S, Arandela J, Raviram R, Choi DC, Hoffman R, Chaligné R, Abdel-Wahab O, Smibert P, Ghobrial IM, Scandura JM, Marcellino B, Levine RL, Landau DA. Nature.

    https://doi.org/10.1038/s41586-024-07388-y

  • Next-generation forward genetic screens: uniting high-throughput perturbations with single-cell analysis

    Morris JA, Sun JS, Sanjana NE. Trends in Genetics [Review].

    https://doi.org/10.1016/j.tig.2023.10.012

  • Jak2V617F Reversible Activation Shows Its Essential Requirement in Myeloproliferative Neoplasms

    Dunbar AJ, Bowman RL, Park YC, O'Connor K, Izzo F, Myers RM, Karzai A, Zaroogian Z, Kim WJ, Fernández-Maestre I, Waarts MR, Nazir A, Xiao W, Codilupi T, Brodsky M, Farina M, Cai L, Cai SF, Wang B, An W, Yang JL, Mowla S, Eisman SE, Hanasoge Somasundara AV, Glass JL, Mishra T, Houston R, Guzzardi E, Martinez Benitez AR, Viny AD, Koche RP, Meyer SC, Landau DA, Levine RL. Cancer Discovery.

    https://doi.org/10.1158/2159-8290.CD-22-0952

2023

  • Essential transcription factors for induced neuron differentiation

    Lu C, Garipler G, Dai C, Roush T, Salome-Correa J, Martin A, Liscovitch-Brauer N, Mazzoni EO, Sanjana NE. Nature Communications.

    https://doi.org/10.1038/s41467-023-43602-7

  • Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox

    Schertzer MD, Stirn A, Isaev K, Pereira L, Das A, Harbison C, Park SH, Wessels HH, Sanjana NE, Knowles DA. bioRxiv [Preprint].

    https://doi.org/10.1101/2023.09.12.557474

  • Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

    Morris JA, Caragine C, Daniloski Z, Domingo J, Barry T, Lu L, Davis K, Ziosi M, Glinos DA, Hao S, Mimitou EP, Smibert P, Roeder K, Katsevich E, Lappalainen T, Sanjana NE. Science.

    https://doi.org/10.1126/science.adh7699