High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification

Autor: Scott Mastromatteo, Angela Chen, Jiafen Gong, Fan Lin, Bhooma Thiruvahindrapuram, Wilson W.L. Sung, Joe Whitney, Zhuozhi Wang, Rohan V. Patel, Katherine Keenan, Anat Halevy, Naim Panjwani, Julie Avolio, Cheng Wang, Guillaume Côté-Maurais, Stéphanie Bégin, Damien Adam, Emmanuelle Brochiero, Candice Bjornson, Mark Chilvers, April Price, Michael Parkins, Richard van Wylick, Dimas Mateos-Corral, Daniel Hughes, Mary Jane Smith, Nancy Morrison, Elizabeth Tullis, Anne L. Stephenson, Pearce Wilcox, Bradley S. Quon, Winnie M. Leung, Melinda Solomon, Lei Sun, Felix Ratjen, Lisa J. Strug

Publikováno v: HGG Advances, Vol 4, Iss 1, Pp 100156- (2023)

Summary: Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block N50 of 4.3

Externí odkaz: https://doaj.org/article/000a1d3c634e4c91b0e728e58acc8bdb

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Trypsin-encoding PRSS1-PRSS2 variations influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia: a Ponte di Legno toxicity working group report

Autor: Lewis B. Silverman, Marie Grosjean, Chirag J. Patel, Wenjian Yang, Morten Tulstrup, Benjamin Ole Wolthers, Rachita Yadav, Eric Larsen, Kjeld Schmiegelow, Thomas Frandsen, Ramneek Gupta, Rachid Abaji, Inge M. van der Sluis, Anja Möricke, Sujith Samarasinghe, Maja Krajinovic, Der-Cherng Liang, Antonella Colombini, Andishe Attarbaschi, Shlomit Barzilai, Gabriele Escherich, Kirsten K. Rasmussen, Martin Stanulla, Ester Zapotocka

Publikováno v: Haematologica
on behalf of the Ponte di Legno toxicity working group 2019, ' Trypsin-encoding PRSS1-PRSS2 variations influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia : A ponte di legno toxicity working group report ', Haematologica, vol. 104, no. 3, pp. 556-563 . https://doi.org/10.3324/haematol.2018.199356
Wolthers, B O, Frandsen, T L, Patel, C J, Abaji, R, Attarbaschi, A, Barzilai, S, Colombini, A, Escherich, G, Grosjean, M, Krajinovic, M, Larsen, E, Liang, D-C, Möricke, A, Rasmussen, K K, Samarasinghe, S, Silverman, L B, van der Sluis, I M, Stanulla, M, Tulstrup, M, Yadav, R, Yang, W, Zapotocka, E, Gupta, R & Schmiegelow, K 2019, ' Trypsin encoding PRSS1-PRSS2 variation influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia: a Ponte di Legno toxicity working group report ', Haematologica, vol. 104, no. 3, pp. 556-563 . https://doi.org/10.3324/haematol.2018.199356

Asparaginase-associated pancreatitis is a life-threatening toxicity to childhood acute lymphoblastic leukemia treatment. To elucidate genetic predisposition and asparaginase-associated pancreatitis pathogenesis, ten trial groups contributed remission

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ce50141c28c8f957b08e44553d7934
http://europepmc.org/articles/PMC6395330

Alcohol-dependent effect of PRSS1-PRSS2 haplotype in chronic pancreatitis

Autor: Péter Hegyi, Andrea Szentesi, Áron Vincze, Eszter Hegyi, Anna Zsófia Tóth, Miklós Sahin-Tóth

Publikováno v: Gut. 69:1713-1715

We read with great interest the studies by Derikx et al ,1 Boulling et al 2 and Masson et al ,3 in which the authors report that a commonly occurring haplotype spanning the PRSS1-PRSS2 locus (encoding human cationic and anionic trypsinogen) is associ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fb01056383518d0180cc5f9e8e68219a
https://doi.org/10.1136/gutjnl-2019-319729