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2022 4
2023 5
2024 1

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Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A. Jensen TD, et al. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565. medRxiv. 2024. PMID: 38585781 Free PMC article. Preprint.
Rewriting regulatory DNA to dissect and reprogram gene expression.
Martyn GE, Montgomery MT, Jones H, Guo K, Doughty BR, Linder J, Chen Z, Cochran K, Lawrence KA, Munson G, Pampari A, Fulco CP, Kelley DR, Lander ES, Kundaje A, Engreitz JM. Martyn GE, et al. bioRxiv [Preprint]. 2023 Dec 21:2023.12.20.572268. doi: 10.1101/2023.12.20.572268. bioRxiv. 2023. PMID: 38187584 Free PMC article. Preprint.
An encyclopedia of enhancer-gene regulatory interactions in the human genome.
Gschwind AR, Mualim KS, Karbalayghareh A, Sheth MU, Dey KK, Jagoda E, Nurtdinov RN, Xi W, Tan AS, Jones H, Ma XR, Yao D, Nasser J, Avsec Ž, James BT, Shamim MS, Durand NC, Rao SSP, Mahajan R, Doughty BR, Andreeva K, Ulirsch JC, Fan K, Perez EM, Nguyen TC, Kelley DR, Finucane HK, Moore JE, Weng Z, Kellis M, Bassik MC, Price AL, Beer MA, Guigó R, Stamatoyannopoulos JA, Lieberman Aiden E, Greenleaf WJ, Leslie CS, Steinmetz LM, Kundaje A, Engreitz JM. Gschwind AR, et al. bioRxiv [Preprint]. 2023 Nov 13:2023.11.09.563812. doi: 10.1101/2023.11.09.563812. bioRxiv. 2023. PMID: 38014075 Free PMC article. Preprint.
The ENCODE Imputation Challenge: a critical assessment of methods for cross-cell type imputation of epigenomic profiles.
Schreiber J, Boix C, Wook Lee J, Li H, Guan Y, Chang CC, Chang JC, Hawkins-Hooker A, Schölkopf B, Schweikert G, Carulla MR, Canakoglu A, Guzzo F, Nanni L, Masseroli M, Carman MJ, Pinoli P, Hong C, Yip KY, Spence JP, Batra SS, Song YS, Mahony S, Zhang Z, Tan W, Shen Y, Sun Y, Shi M, Adrian J, Sandstrom R, Farrell N, Halow J, Lee K, Jiang L, Yang X, Epstein C, Strattan JS, Bernstein B, Snyder M, Kellis M, Stafford W, Kundaje A; ENCODE Imputation Challenge Participants. Schreiber J, et al. Genome Biol. 2023 Apr 18;24(1):79. doi: 10.1186/s13059-023-02915-y. Genome Biol. 2023. PMID: 37072822 Free PMC article.
Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.
Ameen M, Sundaram L, Shen M, Banerjee A, Kundu S, Nair S, Shcherbina A, Gu M, Wilson KD, Varadarajan A, Vadgama N, Balsubramani A, Wu JC, Engreitz JM, Farh K, Karakikes I, Wang KC, Quertermous T, Greenleaf WJ, Kundaje A. Ameen M, et al. Cell. 2022 Dec 22;185(26):4937-4953.e23. doi: 10.1016/j.cell.2022.11.028. Cell. 2022. PMID: 36563664 Free PMC article.