CHOP: haplotype-aware path indexing in population graphs
Mokveld, Tom, Linthorst, Jasper, Al-Ars, Zaid, Holstege, Henne, Reinders, Marcel
Published in Genome Biology (11.03.2020)
Published in Genome Biology (11.03.2020)
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Journal Article
WisecondorFF: Improved Fetal Aneuploidy Detection from Shallow WGS through Fragment Length Analysis
Mokveld, Tom, Al-Ars, Zaid, Sistermans, Erik A, Reinders, Marcel
Published in Diagnostics (Basel) (28.12.2021)
Published in Diagnostics (Basel) (28.12.2021)
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Journal Article
Characterization and visualization of tandem repeats at genome scale
Dolzhenko, Egor, English, Adam, Dashnow, Harriet, De Sena Brandine, Guilherme, Mokveld, Tom, Rowell, William J, Karniski, Caitlin, Kronenberg, Zev, Danzi, Matt C, Cheung, Warren A, Bi, Chengpeng, Farrow, Emily, Wenger, Aaron, Chua, Khi Pin, Martínez-Cerdeño, Verónica, Bartley, Trevor D, Jin, Peng, Nelson, David L, Zuchner, Stephan, Pastinen, Tomi, Quinlan, Aaron R, Sedlazeck, Fritz J, Eberle, Michael A
Published in Nature biotechnology (02.01.2024)
Published in Nature biotechnology (02.01.2024)
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Journal Article
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
Gaillard, Duco H K, Lof, Pien, Sistermans, Erik A, Mokveld, Tom, Horlings, Hugo Mark, Mom, Constantijne H, Reinders, Marcel J T, Amant, Frédéric, van den Broek, Daan, Wessels, Lodewyk F A, Lok, Christianne A R
Published in International journal of gynecological cancer (01.05.2024)
Published in International journal of gynecological cancer (01.05.2024)
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Journal Article
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, Bharati, Garg, Paras, van Vugt, Joke J F A, Ibanez, Kristina, Gagliardi, Delia, Lee, William, Shadrina, Mariya, Mokveld, Tom, Dolzhenko, Egor, Martin-Trujillo, Alejandro, Gies, Scott L, Rocca, Clarissa, Barbosa, Mafalda, Jain, Miten, Lahiri, Nayana, Lachlan, Katherine, Houlden, Henry, Paten, Benedict, Veldink, Jan, Tucci, Arianna, Sharp, Andrew J
Published in medRxiv : the preprint server for health sciences (12.12.2023)
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Published in medRxiv : the preprint server for health sciences (12.12.2023)
Journal Article
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree
Porubsky, David, Dashnow, Harriet, Sasani, Thomas A, Logsdon, Glennis A, Hallast, Pille, Noyes, Michelle D, Kronenberg, Zev N, Mokveld, Tom, Koundinya, Nidhi, Nolan, Cillian, Steely, Cody J, Guarracino, Andrea, Dolzhenko, Egor, Harvey, William T, Rowell, William J, Grigorev, Kirill, Nicholas, Thomas J, Oshima, Keisuke K, Lin, Jiadong, Ebert, Peter, Watkins, W Scott, Leung, Tiffany Y, Hanlon, Vincent C T, McGee, Sean, Pedersen, Brent S, Goldberg, Michael E, Happ, Hannah C, Jeong, Hyeonsoo, Munson, Katherine M, Hoekzema, Kendra, Chan, Daniel D, Wang, Yanni, Knuth, Jordan, Garcia, Gage H, Fanslow, Cairbre, Lambert, Christine, Lee, Charles, Smith, Joshua D, Levy, Shawn, Mason, Christopher E, Garrison, Erik, Lansdorp, Peter M, Neklason, Deborah W, Jorde, Lynn B, Quinlan, Aaron R, Eberle, Michael A, Eichler, Evan E
Published in bioRxiv (05.08.2024)
Published in bioRxiv (05.08.2024)
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Journal Article
CHOP: Haplotype-aware path indexing in population graphs
Mokveld, Tom O, Linthorst, Jasper, Al-Ars, Zaid, Henne Holstege, Reinders, Marcel
Published in bioRxiv (14.03.2019)
Published in bioRxiv (14.03.2019)
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