Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Sissel Juul"'
Autor:
Marie C. Schoelmerich, Lynn Ly, Jacob West-Roberts, Ling-Dong Shi, Cong Shen, Nikhil S. Malvankar, Najwa Taib, Simonetta Gribaldo, Ben J. Woodcroft, Christopher W. Schadt, Basem Al-Shayeb, Xiaoguang Dai, Christopher Mozsary, Scott Hickey, Christine He, John Beaulaurier, Sissel Juul, Rohan Sachdeva, Jillian F. Banfield
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Borgs are huge extrachromosomal elements (ECE) of anaerobic methane-consuming “Candidatus Methanoperedens” archaea. Here, we used nanopore sequencing to validate published complete genomes curated from short reads and to reconstruct new
Externí odkaz:
https://doaj.org/article/45b95488e0424984b28322abcb750e1d
Autor:
Tobias T. Schmidt, Carly Tyer, Preeyesh Rughani, Candy Haggblom, Jeffrey R. Jones, Xiaoguang Dai, Kelly A. Frazer, Fred H. Gage, Sissel Juul, Scott Hickey, Jan Karlseder
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract Telomeres are the protective nucleoprotein structures at the end of linear eukaryotic chromosomes. Telomeres’ repetitive nature and length have traditionally challenged the precise assessment of the composition and length of individual hum
Externí odkaz:
https://doaj.org/article/ac9349b7d0b84261a97d9004aa5ba159
Autor:
Yilei Fu, Sergey Aganezov, Medhat Mahmoud, John Beaulaurier, Sissel Juul, Todd J. Treangen, Fritz J. Sedlazeck
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract The assignment of variants across haplotypes, phasing, is crucial for predicting the consequences, interaction, and inheritance of mutations and is a key step in improving our understanding of phenotype and disease. However, phasing is limit
Externí odkaz:
https://doaj.org/article/1dd83e9f61f048f28d406eb4b606a3d9
Autor:
Saravanan Ganesan, Mariela Cortés-López, Ariel D. Swett, Xiaoguang Dai, Scott Hickey, Paulina Chamely, Allegra G. Hawkins, Sissel Juul, Dan A. Landau, Federico Gaiti
Publikováno v:
STAR Protocols, Vol 5, Iss 2, Pp 102966- (2024)
Summary: Studying RNA splicing factor mutations is challenging due to difficulties in distinguishing wild-type and mutant cells within complex human tissues and inaccuracies associated with reconstructing splicing signals from short-read sequencing d
Externí odkaz:
https://doaj.org/article/1a6555dac06745db9830feffe2205b45
Autor:
Victoria Marini, Fedor Nikulenkov, Pounami Samadder, Sissel Juul, Birgitta R. Knudsen, Lumir Krejci
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-16 (2023)
Abstract Background DNA-protein cross-links (DPCs) are one of the most deleterious DNA lesions, originating from various sources, including enzymatic activity. For instance, topoisomerases, which play a fundamental role in DNA metabolic processes suc
Externí odkaz:
https://doaj.org/article/f27960dd49134ebbb90288484d64163e
Autor:
Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P. J. Hastings, Weimin Bi, Richard A. Gibbs, Fritz J. Sedlazeck, James R. Lupski, Claudia M. B. Carvalho, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-21 (2022)
Abstract Background The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygoti
Externí odkaz:
https://doaj.org/article/fea7d8f692a64a578e2bc6531220b304
Autor:
Jae Young Choi, Zoe N. Lye, Simon C. Groen, Xiaoguang Dai, Priyesh Rughani, Sophie Zaaijer, Eoghan D. Harrington, Sissel Juul, Michael D. Purugganan
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-27 (2020)
Abstract Background The circum-basmati group of cultivated Asian rice (Oryza sativa) contains many iconic varieties and is widespread in the Indian subcontinent. Despite its economic and cultural importance, a high-quality reference genome is current
Externí odkaz:
https://doaj.org/article/684ef4ff48e74bbeb5abee60a299b41a
Autor:
Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
Abstract Background Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neu
Externí odkaz:
https://doaj.org/article/9879805980e143e1af4e72fdff58ff03
Autor:
Dafni A. Glinos, Garrett Garborcauskas, Paul Hoffman, Nava Ehsan, Lihua Jiang, Alper Gokden, Xiaoguang Dai, François Aguet, Kathleen L. Brown, Kiran Garimella, Tera Bowers, Maura Costello, Kristin Ardlie, Ruiqi Jian, Nathan R. Tucker, Patrick T. Ellinor, Eoghan D. Harrington, Hua Tang, Michael Snyder, Sissel Juul, Pejman Mohammadi, Daniel G. MacArthur, Tuuli Lappalainen, Beryl B. Cummings
Publikováno v:
Nature. 608:353-359
Regulation of transcript structure generates transcript diversity and plays an important role in human disease
Autor:
Yilei Fu, Sergey Aganezov, Medhat Mahmoud, John Beaulaurier, Sissel Juul, Todd J. Treangen, Fritz J Sedlazeck
The assignment of variants across haplotypes, phasing, is crucial for predicting the consequences, interaction, and inheritance of mutations and is a key step in improving our understanding of phenotype and disease. However, phasing is limited by rea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fc8f1785b8e9b13547f7daa01fa9316
https://doi.org/10.1101/2023.05.12.540573
https://doi.org/10.1101/2023.05.12.540573