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Evaluating the effectiveness of pre-operative diagnosis of ovarian cancer using minimally invasive liquid biopsies by combining serum human epididymis protein 4 and cell-free DNA in patients with an ovarian mass.
Int J Gynecol Cancer. 2024 May 6;34(5):713-721. doi: 10.1136/ijgc-2023-005073.
Int J Gynecol Cancer. 2024.
PMID: 38388177
Characterization and visualization of tandem repeats at genome scale.
Dolzhenko E, English A, Dashnow H, De Sena Brandine G, Mokveld T, Rowell WJ, Karniski C, Kronenberg Z, Danzi MC, Cheung WA, Bi C, Farrow E, Wenger A, Chua KP, Martínez-Cerdeño V, Bartley TD, Jin P, Nelson DL, Zuchner S, Pastinen T, Quinlan AR, Sedlazeck FJ, Eberle MA.
Dolzhenko E, et al. Among authors: mokveld t.
Nat Biotechnol. 2024 Jan 2. doi: 10.1038/s41587-023-02057-3. Online ahead of print.
Nat Biotechnol. 2024.
PMID: 38168995
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A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of 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 SL, 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. Among authors: mokveld t.
medRxiv [Preprint]. 2023 Dec 12:2023.05.03.23289461. doi: 10.1101/2023.05.03.23289461.
medRxiv. 2023.
PMID: 37205357
Free PMC article.
Preprint.
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A comprehensive performance analysis of sequence-based within-sample testing NIPT methods.
Mokveld T, Al-Ars Z, Sistermans EA, Reinders M.
Mokveld T, et al.
PLoS One. 2023 Apr 14;18(4):e0284493. doi: 10.1371/journal.pone.0284493. eCollection 2023.
PLoS One. 2023.
PMID: 37058455
Free PMC article.
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WisecondorFF: Improved Fetal Aneuploidy Detection from Shallow WGS through Fragment Length Analysis.
Mokveld T, Al-Ars Z, Sistermans EA, Reinders M.
Mokveld T, et al.
Diagnostics (Basel). 2021 Dec 28;12(1):59. doi: 10.3390/diagnostics12010059.
Diagnostics (Basel). 2021.
PMID: 35054227
Free PMC article.
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CHOP: haplotype-aware path indexing in population graphs.
Mokveld T, Linthorst J, Al-Ars Z, Holstege H, Reinders M.
Mokveld T, et al.
Genome Biol. 2020 Mar 11;21(1):65. doi: 10.1186/s13059-020-01963-y.
Genome Biol. 2020.
PMID: 32160922
Free PMC article.
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