Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

Bron
Genome research - ISSN 1088-9051- (2024) p. 1-8
Auteur(s)

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

Bron
Genome research - ISSN 1088-9051- (2024) p. 1-14
Auteur(s)
    Jonas A. Gustafson, Sophia B. Gibson, Nikhita Damaraju, Miranda P.G. Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A. Snead, Phillip A. Richmond, Wouter De Coster, Nathan D. Olson, Andrea Guarracino, Qiuhui Li, Angela L. Miller, Joy Goffena, Zachary B. Anderson, Sophie H.R. Storz, Sydney A. Ward, Maisha Sinha, Claudia Gonzaga-Jauregui, Wayne E. Clarke, Anna O. Basile, André Corvelo, Catherine Reeves, Adrienne Helland, Rajeeva Lochan Musunuri, Mahler Revsine, Karynne E. Patterson, Cate R. Paschal, Christina Zakarian, Sara Goodwin, Tanner D. Jensen, Esther Robb, W. Richard McCombie, Fritz J. Sedlazeck, Justin M. Zook, Stephen B. Montgomery, Erik Garrison, Mikhail Kolmogorov, Michael C. Schatz, Richard N. McLaughlin, Harriet Dashnow, Michael C. Zody, Matt Loose, Miten Jain, Evan E. Eichler, Danny E. Miller

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Bron
medRxiv- (2024) p. 1-51
Auteur(s)
    Cyril Pottier, Fahri Küçükali, Matt Baker, Anthony Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa Murray, Júlia Faura Llorens, Stephen J. Haggarty, Jeroen G.J. van Rooij, Merel O. Mol, Ging-Yuek R. Hsiung, Caroline Graff, Linn Öijerstedt, Manuela Neumann, Yan Asmann, Shannon K. McDonnell, Saurabh Baheti, Keith A. Josephs, Jennifer L. Whitwell, Kevin F. Bieniek, Leah Forsberg, Hilary Heuer, Argentina Lario Lago, Ethan G. Geier, Jennifer S. Yokoyama, Alexis P. Oddi, Margaret Flanagan, Qinwen Mao, John R. Hodges, John B. Kwok, Kimiko Domoty-Reilly, Matthis Synofzik, Carlo Wilke, Chiadi Onyike, Bradford C. Dickerson, Bret M. Evers, Brittany N. Dugger, David G. Munoz, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, EunRan Suh, Kristel Sleegers, Rosa Rademakers

Scywalker : scalable end-to-end data analysis workflow for long-read single-cell transcriptome sequencing

Bron
Bioinformatics - ISSN 1367-4803-40:9 (2024) p. 1-10
Auteur(s)

Analysis and benchmarking of small and large genomic variants across tandem repeats

Bron
Nature biotechnology - ISSN 1087-0156- (2024) p.
Auteur(s)
    Adam C. English, Egor Dolzhenko, Helyaneh Ziaei Jam, Sean K. Mckenzie, Nathan D. Olson, Wouter De Coster, Jonghun Park, Bida Gu, Justin Wagner, Michael A. Eberle, Melissa Gymrek, Mark J.P. Chaisson, Justin M. Zook, Fritz J. Sedlazeck