Publications
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Featured Publications
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Human-specific NOTCH-like genes in a region linked to neurodevelopmental disorders affect cortical neurogenesis
Ian T Fiddes1, Gerrald A Lodewijk2, Meghan M Mooring1, Colleen M Bosworth1, Adam D Ewing1, Gary L Mantalas1, Adam M Novak1, Anouk van den Bout2, Alex Bishara3, Jimi L Rosenkrantz1, Ryan Lorig-Roach1, Andrew R Field1, Maximillian Haeussler1, Lotte Russo2,Aparna Bhaduri4, Tomasz J Nowakowski4, Alex A Pollen4, Max L Dougherty5, Xander Nuttle6, Marie-Claude Addor7, Simon Zwolinski8, Sol Katzman1, Arnold Kreigstein4, Evan E Eichler5, Sofie R Salama1 (ssalama{at}ucsc.edu), Frank MJ Jacobs2 and David Haussler1(haussler{at}ucsc.edu) 1 University of California, Santa Cruz; 2 University of Amsterdam; 3 Stanford University; 4 University of California,…
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Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
Ian T. Fiddes1, 15, Gerrald A. Lodewijk2, 15, Meghan Mooring1, Colleen M. Bosworth1, Adam D. Ewing1, 16, Gary L. Mantalas1, 3, Adam M. Novak1, Anouk van den Bout2, Alex Bishara4, Jimi L. Rosenkrantz1, 5, Ryan Lorig-Roach1, Andrew R. Field1, 3, Maximilian Haeussler1, Lotte Russo2, Aparna Bhaduri6, Tomasz J. Nowakowski6, Alex A. Pollen6, Max L. Dougherty7, Xander Nuttle8, 9, 10, Marie-Claude Addor11, Simon Zwolinski12,…
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Nanopore sequencing and assembly of a human genome with ultra-long reads
Abstract: We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb of sequence data, representing ∼30× theoretical coverage, were produced. Reference-based alignment enabled detection of large structural variants and epigenetic modifications. De novo assembly of nanopore reads alone yielded a contiguous…