Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

by Hannah E. Roberts, Maria Lopopolo, Alistair T. Pagnamenta, Eshita Sharma, Duncan Parkes, Lorne Lonie, Colin Freeman, Samantha J. L. Knight, Gerton Lunter, Helene Dreau, Helen Lockstone, Jenny C. Taylor, Anna Schuh, Rory Bowden, David Buck
Published 2021-03-01

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

by Ryan M. Baxley, Wendy Leung, Megan M. Schmit, Jacob Peter Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh Watkins, Eric A. Hendrickson, Emily M. Mace, Jordan S. Orange, Hideki Aihara, Grant S. Stewart, Edward Blair, Jeanette Gowen Cook, Anja-Katrin Bielinsky
Published 2021-03-01