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Your search keyword '"Wirta, Valtteri"' showing total 11 results
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11 results on '"Wirta, Valtteri"'

1. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Author

Delgado-Vega, Angelica Maria, Cederroth, Helene, Taylan, Fulya, Ekholm, Katja, Ek, Marlene, Thonberg, Håkan, Jemt, Anders, Nilsson, Daniel, Eisfeldt, Jesper, Bilgrav Saether, Kristine, Höijer, Ida, Akgun-Dogan, Ozlem, Asano, Yui, Barakat, Tahsin Stefan, Batkovskyte, Dominyka, Baynam, Gareth, Bodamer, Olaf, Chetruengchai, Wanna, Corcoran, Pádraic, Couse, Madeline, Danis, Daniel, Demidov, German, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Grigelioniene, Giedre, Groza, Tudor, Gunnarsson, Cecilia, Hammarsjö, Anna, Hammond, Charles Kumi, Hatirnaz Ng, Özden, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin, Kvlividze, Oleg, Lagerstedt-Robinson, Kristina, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven, Lim, Weng Khong, Liu, Zhandong, Lysenkova Wiklander, Mariya, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen, Neethiraj, Ramprasad, Nigro, Vincenzo, Nordgren, Felix, Nordlund, Jessica, Orrsjö, Sara, Ottosson, Jesper, Ozbek, Ugur, Özdemir, Özkan, Partin, Clyde, Pearce, David A., Peck, Raquel, Pedersen, Annie, Pettersson, Maria, Pongpanich, Monnat, Posada de la Paz, Manuel, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard, Saw, Aung Min, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon, Tapia-Paez, Isabel, Taruscio, Domenica, Taylor, Julie P., Tkemaladze, Tinatin, Tully, Ian, Tümer, Zeynep, van Zelst-Stams, Wendy A. G., Verloes, Alain, Västerviga, Emma, Wang, Sailan, Yang, Rachel, Yamamoto, Shinya, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk, Wiafe, Samuel Agyei, Alanay, Yasemin, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé, Palmer, Elizabeth Emma, Puri, Ratna Dua, Wirta, Valtteri, Lindstrand, Anna, Buske, Orion J., Cederroth, Mikk, and Nordgren, Ann more...

Abstract

In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics. more...

Published
2024
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2. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Author

Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M., Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E., Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S., Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, and Grigelioniene, Giedre more...

Abstract

Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACAand in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies. more...

Published
2021
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3. Implementing precision medicine in a regionally organized healthcare system in Sweden

Author

Fioretos, Thoas, Wirta, Valtteri, Cavelier, Lucia, Berglund, Eva, Friedman, Mikaela, Akhras, Michael, Botling, Johan, Ehrencrona, Hans, Engstrand, Lars, Helenius, Gisela, Fagerqvist, Therese, Gisselsson, David, Gruvberger-Saal, Sofia, Gyllensten, Ulf, Heidenblad, Markus, Höglund, Kina, Jacobsson, Bo, Johansson, Maria, Johansson, Åsa, Soller, Maria Johansson, Landström, Maréne, Larsson, Pär, Levin, Lars-Åke, Lindstrand, Anna, Lovmar, Lovisa, Lyander, Anna, Melin, Malin, Nordgren, Ann, Nordmark, Gunnel, Mölling, Paula, Palmqvist, Lars, Palmqvist, Richard, Repsilber, Dirk, Sikora, Per, Stenmark, Bianca, Söderkvist, Peter, Stranneheim, Henrik, Strid, Tobias, Wheelock, Craig E., Wadelius, Mia, Wedell, Anna, Edsjö, Anders, and Rosenquist, Richard more...

Published
2022
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4. Ein Fall von Pankreaskarzinom

Author

Löhr, J.-Matthias, Kordes, Maximilian, Gustafsson-Liljefors, Maria, Ghazi, Sam, Kartalis, Nikolaos, Wirta, Valtteri, Frödin, Jan-Eric, Hackert, Thilo, Brock, Stephan, Stecker, Katrin, Huelsewig, Caroline, Ernstrand, Lars, Permert, Johan, and Jäger, Dirk more...

Published
2018
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5. Genomic Determinants of Therapy Response in ETV6::RUNX1Leukemia

Author

Oksa, Laura, Moisio, Sanni, Maqbool, Khurram, Foroughi-Asl, Hassan, Kramer, Roger, Nikkilä, Atte, Vepsäläinen, Kaisa, Duque-Afonso, Jesus, Hauer, Julia, Nordlund, Jessica, Wirta, Valtteri, Lohi, Olli, and Heinäniemi, Merja more...

Abstract

ETV6::RUNX1leukemia is the second most common childhood B-cell acute lymphoblastic leukemia subtype. Although it has a low overall relapse risk, a significant proportion of relapses occur within this subtype due to its relatively high incidence. No consistent genomic biomarkers have been identified that predict therapy response beyond early therapy response as measured by minimal residual disease at the end of induction. more...

Published
2023
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8. Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Author

Gong, Binsheng, Li, Dan, Kusko, Rebecca, Novoradovskaya, Natalia, Zhang, Yifan, Wang, Shangzi, Pabón-Peña, Carlos, Zhang, Zhihong, Lai, Kevin, Cai, Wanshi, LoCoco, Jennifer S., Lader, Eric, Richmond, Todd A., Mittal, Vinay K., Liu, Liang-Chun, Johann, Donald J., Willey, James C., Bushel, Pierre R., Yu, Ying, Xu, Chang, Chen, Guangchun, Burgess, Daniel, Cawley, Simon, Giorda, Kristina, Haseley, Nathan, Qiu, Fujun, Wilkins, Katherine, Arib, Hanane, Attwooll, Claire, Babson, Kevin, Bao, Longlong, Bao, Wenjun, Lucas, Anne Bergstrom, Best, Hunter, Bhandari, Ambica, Bisgin, Halil, Blackburn, James, Blomquist, Thomas M., Boardman, Lisa, Burgher, Blake, Butler, Daniel J., Chang, Chia-Jung, Chaubey, Alka, Chen, Tao, Chierici, Marco, Chin, Christopher R., Close, Devin, Conroy, Jeffrey, Cooley Coleman, Jessica, Craig, Daniel J., Crawford, Erin, del Pozo, Angela, Deveson, Ira W., Duncan, Daniel, Eterovic, Agda Karina, Fan, Xiaohui, Foox, Jonathan, Furlanello, Cesare, Ghosal, Abhisek, Glenn, Sean, Guan, Meijian, Haag, Christine, Hang, Xinyi, Happe, Scott, Hennigan, Brittany, Hipp, Jennifer, Hong, Huixiao, Horvath, Kyle, Hu, Jianhong, Hung, Li-Yuan, Jarosz, Mirna, Kerkhof, Jennifer, Kipp, Benjamin, Kreil, David Philip, Łabaj, Paweł, Lapunzina, Pablo, Li, Peng, Li, Quan-Zhen, Li, Weihua, Li, Zhiguang, Liang, Yu, Liu, Shaoqing, Liu, Zhichao, Ma, Charles, Marella, Narasimha, Martín-Arenas, Rubén, Megherbi, Dalila B., Meng, Qingchang, Mieczkowski, Piotr A., Morrison, Tom, Muzny, Donna, Ning, Baitang, Parsons, Barbara L., Paweletz, Cloud P., Pirooznia, Mehdi, Qu, Wubin, Raymond, Amelia, Rindler, Paul, Ringler, Rebecca, Sadikovic, Bekim, Scherer, Andreas, Schulze, Egbert, Sebra, Robert, Shaknovich, Rita, Shi, Qiang, Shi, Tieliu, Silla-Castro, Juan Carlos, Smith, Melissa, López, Mario Solís, Song, Ping, Stetson, Daniel, Strahl, Maya, Stuart, Alan, Supplee, Julianna, Szankasi, Philippe, Tan, Haowen, Tang, Lin-ya, Tao, Yonghui, Thakkar, Shraddha, Thierry-Mieg, Danielle, Thierry-Mieg, Jean, Thodima, Venkat J., Thomas, David, Tichý, Boris, Tom, Nikola, Garcia, Elena Vallespin, Verma, Suman, Walker, Kimbley, Wang, Charles, Wang, Junwen, Wang, Yexun, Wen, Zhining, Wirta, Valtteri, Wu, Leihong, Xiao, Chunlin, Xiao, Wenzhong, Xu, Shibei, Yang, Mary, Ying, Jianming, Yip, Shun H., Zhang, Guangliang, Zhang, Sa, Zhao, Meiru, Zheng, Yuanting, Zhou, Xiaoyan, Mason, Christopher E., Mercer, Timothy, Tong, Weida, Shi, Leming, Jones, Wendell, and Xu, Joshua more...

Abstract

Background: Targeted sequencing using oncopanels requires comprehensive assessments of accuracy and detection sensitivity to ensure analytical validity. By employing reference materials characterized by the U.S. Food and Drug Administration-led SEquence Quality Control project phase2 (SEQC2) effort, we perform a cross-platform multi-lab evaluation of eight Pan-Cancer panels to assess best practices for oncopanel sequencing. Results: All panels demonstrate high sensitivity across targeted high-confidence coding regions and variant types for the variants previously verified to have variant allele frequency (VAF) in the 5–20% range. Sensitivity is reduced by utilizing VAF thresholds due to inherent variability in VAF measurements. Enforcing a VAF threshold for reporting has a positive impact on reducing false positive calls. Importantly, the false positive rate is found to be significantly higher outside the high-confidence coding regions, resulting in lower reproducibility. Thus, region restriction and VAF thresholds lead to low relative technical variability in estimating promising biomarkers and tumor mutational burden. Conclusion: This comprehensive study provides actionable guidelines for oncopanel sequencing and clear evidence that supports a simplified approach to assess the analytical performance of oncopanels. It will facilitate the rapid implementation, validation, and quality control of oncopanels in clinical use. more...

Published
2021
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9. Mutations of the Novel Tumor Suppressor Gene SAMHD1 Are Frequent and Correlate with Decreased Protein Expression in Peripheral T-Cell Lymphomas (PTCL)

Author

Kokaraki, Georgia, Xagoraris, Ioanna, Farrajota Neves Da Silva, Pedro, Sutton, Lesley Ann, Maia Falcão, Raul, Estefano Santana de Souza, Jorge, Österborg, Anders, Wirta, Valtteri, Rosenquist Brandell, Richard, and Rassidakis, Georgios Z. more...

Abstract

Introduction:The SAM domain and HD domain 1 (SAMHD1) protein is a deoxynucleoside triphosphate (dNTP) triphosphohydrolase, which depletes the intracellular dNTP substrates and thus protects the host (human) cells from replication of viruses such as HIV. Mutations of SAMHD1 gene have been linked to Aicardi-Goutières syndrome (AGS). In lymphoid malignancies, SAMHD1 gene mutations have been detected in a subset of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) resulting in decreased SAMHD1 mRNA levels and also mantle cell lymphoma (MCL) among B-cell neoplasms as well as in a subset (20%) of T-prolymphocytic leukemia (T-PLL). Therefore, SAMHD1 may play a role in oncogenesis as a tumor suppressor. In addition, SAMHD1 may confer resistance to cytarabine by hydrolysing their active triphosphate metabolites and its high protein levels correlate with poorer clinical outcome in acute myeloid leukemia. The mutation status of SAMHD1 gene and its expression patterns in peripheral T-cell lymphoma types is not known yet. The purpose of this study was to investigate SAMHD1 gene alterations using next generation sequencing and SAMHD1 protein expression in common types of PTCL. more...

Published
2021
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10. Mutations of the Novel Tumor Suppressor Gene SAMHD1 Are Frequent and Correlate with Decreased Protein Expression in Peripheral T-Cell Lymphomas (PTCL)

Author

Kokaraki, Georgia, Xagoraris, Ioanna, Farrajota Neves Da Silva, Pedro, Sutton, Lesley Ann, Maia Falcão, Raul, Estefano Santana de Souza, Jorge, Österborg, Anders, Wirta, Valtteri, Rosenquist Brandell, Richard, and Rassidakis, Georgios Z. more...

Abstract

Rosenquist Brandell: AbbVie: Honoraria; AstraZeneca: Honoraria; Illumina: Honoraria; Janssen: Honoraria; Roche: Honoraria.

Published
2021
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11. Mutation C677T of Methylenetetrahydrofolate Reductase Gene Is Not Associated with Coronary Artery Disease, but Possibly with Albuminuria, in Type 2 Diabetic Patients

Author

Wirta, Valtteri, Huang, Xiao-Hong, Wirta, Ole, Rantalaiho, Vappu, Pasternack, Amos, Jokela, Hannu, Koivula, Timo, and Lehtimäki, Terho

Abstract

AbstractThe missense mutation in the 677th nucleotide (C677T) of methylenetetrahydrofolate reductase gene causes substitution of valine (V) for alanine (A) resulting in three genotypes VV, VA and AA. The VV genotype causes hyperhomocysteinemia and may be a risk factor for coronary artery disease. We determined genotypes by polymerase chain reaction and subsequent restriction fragment length analysis and compared them in 84 patients with type 2 diabetes and in 115 non-diabetic subjects with and without coronary disease. Fractional urinary excretion rate of albumin was assessed by nephelometry. The VV, VA, and AA frequencies in the diabetic and in the control groups were 0.095, 0.357, 0.548 and 0.061, 0.417, 0.522, respectively (p = NS, diabetic vs. controls, χ2test). Genotype frequencies did not differ in either diabetic or control subjects between those with or those without coronary disease (χ2test). The fractional urinary excretion rate of albumin (mean ±SD) in diabetic patients with the VV genotype i.e. 1.59 ± 0.71 was lower (Kruskall-Wallis test p = 0.002) than in the other genotypes i.e. VA 5.98 ± 9.75 and AA 3.75 ± 4.77, respectively (post-hocMann-Whitney test VV vs. VA p = 0.005 and VV vs. AA p = 0.054, respectively). We found that in patients with type 2 diabetes the methylenetetrahydrofolate reductase VV genotype was associated with a low urinary albumin excretion but not with coronary artery disease or diabetes per se. more...

Published
1998
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