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The GIAB genomic stratifications resource for human reference genomes.
Dwarshuis N, Kalra D, McDaniel J, Sanio P, Alvarez Jerez P, Jadhav B, Huang WE, Mondal R, Busby B, Olson ND, Sedlazeck FJ, Wagner J, Majidian S, Zook JM. Dwarshuis N, et al. Among authors: jadhav b. Nat Commun. 2024 Oct 19;15(1):9029. doi: 10.1038/s41467-024-53260-y. Nat Commun. 2024. PMID: 39424793 Free PMC article.
Clinical and Technical Validation of OncoIndx® Assay-A Comprehensive Genome Profiling Assay for Pan-Cancer Investigations.
Ramesh A, Bharde A, D'Souza A, Jadhav B, Prajapati S, Hariramani K, Basavalingegowda M, Iyer S, Halder S, Deochake M, Kothavade H, Vasudevan A, Uttarwar M, Khandare J, Shafi G. Ramesh A, et al. Among authors: jadhav b. Cancers (Basel). 2024 Oct 8;16(19):3415. doi: 10.3390/cancers16193415. Cancers (Basel). 2024. PMID: 39410034 Free PMC article.
Increased frequency of repeat expansion mutations across different populations.
Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A, Gies SJ, Galassi Deforie V, Dalmia A, Hensman Moss DJ, Vandrovcova J, Rocca C, Moutsianas L, Marini-Bettolo C, Walker H, Turner C, Shoai M, Long JD, Fratta P, Langbehn DR, Tabrizi SJ, Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. Among authors: jadhav b. Nat Med. 2024 Nov;30(11):3357-3368. doi: 10.1038/s41591-024-03190-5. Epub 2024 Oct 1. Nat Med. 2024. PMID: 39354197
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SJ, Altman G, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Nat Genet. 2024 Nov;56(11):2322-2332. doi: 10.1038/s41588-024-01917-1. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313615
TRGT-denovo: accurate detection of de novo tandem repeat mutations.
Mokveld T, Dolzhenko E, Dashnow H, Nicholas TJ, Sasani T, van der Sanden B, Jadhav B, Pedersen B, Kronenberg Z, Tucci A, Sharp AJ, Quinlan AR, Gilissen C, Hoischen A, Eberle MA. Mokveld T, et al. Among authors: jadhav b. bioRxiv [Preprint]. 2024 Jul 19:2024.07.16.600745. doi: 10.1101/2024.07.16.600745. bioRxiv. 2024. PMID: 39071386 Free PMC article. Preprint.
61 results