Search

Your search keyword '"Lucattini A"' showing total 2 results
Start Over Author "Lucattini A" Publication Type Magazines
2 results on '"Lucattini A"'

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

Author

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

Abstract

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 detection in single cells. We identify thousands of unannotated isoforms and find conserved functional modules that are enriched for alternative transcript usage in different cell types and species, including ribosome biogenesis and mRNA splicing. Analysis at the transcript level allows data integration with scATAC-seq on individual promoters, improved correlation with protein expression data, and linked mutations known to confer drug resistance to transcriptome heterogeneity.

Published
2021
Full Text
View/download PDF

2. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De NovoDuplications in the ATAD3Locus

Author

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

Abstract

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 segmental duplications. The ATAD3locus is one such region in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results