Comprehensive characterization of single-cell full-length isoforms in human and mouse with long-read sequencing

Autor: Shanika L. Amarasinghe, Mei R. M. Du, Jakob Schuster, Michael B. Clark, Changqing Wang, Yair David Joseph Prawer, Xueyi Dong, Audrey S. M. Chan, Mary Ann Anderson, Casey J. A. Anttila, James G. Ryall, Gordon S. Lynch, Hasaru Kariyawasam, Ian J. Majewski, Jafar S. Jabbari, Christoffer Flensburg, Andrew W. Roberts, Charity W. Law, Shian Su, Luyi Tian, Hongke Peng, Quentin Gouil, Chi Hai Ly, Coralina Collar-Fernández, Timur Naim, Alexis Lucattini, David C.S. Huang, Rachel Thijssen, Oliver Voogd, Matthew E. Ritchie, Jin D. Chung

Publikováno v: Genome Biology
Genome Biology, Vol 22, Iss 1, Pp 1-24 (2021)

A modified Chromium 10x droplet-based protocol that subsamples cells for both short-read and long-read (nanopore) sequencing together with a new computational pipeline (FLAMES) is developed to enable isoform discovery, splicing analysis, and mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e289a038a95ecf949613a0b20be17e8
http://europepmc.org/articles/PMC8582192

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Autor: Flora Y. Wong, Nicole J. Lake, Michael T. Ryan, Anne Marie E. Welch, Kazuhiro R. Nitta, Sarah E. Calvo, Yoshihito Kishita, Daniella H Hock, David A. Stroud, Simone Tregoning, Gareth Baynam, Michael Rodriguez, André E. Minoche, Susan Arbuckle, Kaustuv Bhattacharya, Yasushi Okazaki, David J. Amor, Akira Ohtake, George McGillivray, John Christodoulou, R. Jeroen Vermeulen, Mary Louise Freckmann, Atsuko Imai-Okazaki, Shanti Balasubramaniam, Carolyn Ellaway, Luke E. Formosa, David R. Thorburn, Marjo S van der Knaap, Alison G. Compton, Rocio Rius, Janice M. Fletcher, Mark J. Cowley, Cas Simons, Ann E. Frazier, Kei Murayama, Alexis Lucattini, Ryan J. Taft, Barry Lewis, David Francis, Simon Sadedin, Sumudu S.C. Amarasekera, Jafar S. Jabbari, Vamsi K. Mootha, Min Wang, Esko Wiltshire

Publikováno v: Frazier, A E, Compton, A G, Kishita, Y, Hock, D H, Welch, A M E, Amarasekera, S S C, Rius, R, Formosa, L E, Imai-Okazaki, A, Francis, D, Wang, M, Lake, N J, Tregoning, S, Jabbari, J S, Lucattini, A, Nitta, K R, Ohtake, A, Murayama, K, Amor, D J, McGillivray, G, Wong, F Y, van der Knaap, M S, Vermeulen, R J, Wiltshire, E J, Fletcher, J M, Lewis, B, Baynam, G, Ellaway, C, Balasubramaniam, S, Bhattacharya, K, Freckmann, M L, Arbuckle, S, Rodriguez, M, Taft, R J, Sadedin, S, Cowley, M J, Minoche, A E, Calvo, S E, Mootha, V K, Ryan, M T, Okazaki, Y, Stroud, D A, Simons, C, Christodoulou, J & Thorburn, D R 2021, ' Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus ', Med, vol. 2, no. 1, pp. 49-73.e10 . https://doi.org/10.1016/j.medj.2020.06.004
Med, 2(1), 49-73.e10. Cell Press

Summary Background In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b50f10f2b85c45465523a075c89ba3ff
https://research.vumc.nl/en/publications/1832e9e2-32f9-4c73-848a-8df349686c9d

Genetic susceptibility to hydroxychloroquine retinal toxicity

Autor: Ian P. Wicks, Anthony J. Hall, Rc Andrew Symons, Alexis Lucattini, Heather G Mack, Tanya Kowalski

Publikováno v: Ophthalmic genetics. 41(2)

Background: Hydroxychloroquine retinal toxicity can occur in up to 7.5% of patients receiving treatment; however, possible genetic risk factors are poorly understood. The main objective of the study was to explore candidate genetic risk factors for r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8ed1d6e94c9394b90a9e852ff046c1
https://pubmed.ncbi.nlm.nih.gov/32281450