Last week, we released the initial structural variant (SV) callset for the Genome Aggregation Database (gnomAD), which included nearly a half-million distinct SVs discovered across ~15 thousand human whole-genome sequences.
fiddleIn this preprint we describe @nanopore analysis of CO-transcriptional Processing (nano-COP) that directly sequences nascent RNA. With human and Drosophila data, we answer the above questions and shed light on how splicing patterns are achieved (2/4)
mjpchaissonThis was a huge effort that we are all proud to have out! t.co/uyJw8luQhe . There are so many contributors it's impossible to thank everybody........ just kidding, thank you Ashley Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, @EugenomeUK...