Structural and Non-Coding Variants Increase the Diagnostic Yield of Clinical Whole Genome Sequencing for Rare Diseases

Alistair T. Pagnamenta,Carme Camps,Edoardo Giacopuzzi,John M. Taylor,Mona Hashim,Eduardo Calpena,Pamela J. Kaisaki, Akiko Hashimoto,Jing Yu,Edward Sanders,Ron Schwessinger,Jim R. Hughes,Gerton Lunter,Helene Dreau,Matteo Ferla,Lukas Lange,Yesim Kesim,Vassilis Ragoussis,Dimitrios V. Vavoulis, Holger Allroggen,Olaf Ansorge,Christian Babbs,Siddharth Banka,Benito Baños-Piñero,David Beeson,Tal Ben-Ami,David L. Bennett,Celeste Bento,Edward Blair,Charlotte Brasch-Andersen,Katherine R. Bull,Holger Cario,Deirdre Cilliers,Valerio Conti,E. Graham Davies,Fatima Dhalla, Beatriz Diez Dacal,Yin Dong,James E. Dunford,Renzo Guerrini,Adrian L. Harris,Jane Hartley,Georg Hollander,Kassim Javaid,Maureen Kane,Deirdre Kelly,Dominic Kelly,Samantha J. L. Knight,Alexandra Y. Kreins,Erika M. Kvikstad,Craig B. Langman,Tracy Lester,Kate E. Lines,Simon R. Lord,Xin Lu,Sahar Mansour,Adnan Manzur,Reza Maroofian,Brian Marsden,Joanne Mason,Simon J. McGowan,Davide Mei,Hana Mlcochova,Yoshiko Murakami,Andrea H. Németh,Steven Okoli,Elizabeth Ormondroyd,Lilian Bomme Ousager,Jacqueline Palace,Smita Y. Patel,Melissa M. Pentony,Chris Pugh,Aboulfazl Rad, Archana Ramesh,Simone G. Riva,Irene Roberts,Noémi Roy,Outi Salminen, Kyleen D. Schilling,Caroline Scott,Arjune Sen,Conrad Smith,Mark Stevenson,Rajesh V. Thakker,Stephen R. F. Twigg,Holm H. Uhlig,Richard van Wijk,Barbara Vona,Steven Wall, Jing Wang,Hugh Watkins,Jaroslav Zak,Anna H. Schuh,Usha Kini,Andrew O. M. Wilkie,Niko Popitsch,Jenny C. Taylor

GENOME MEDICINE（2023）

Cited 15|Views72

Key words

Genome sequencing,Rare diseases,Structural variant,Splice site variant,Non-coding,Diagnostic yield,Clinical impact,Bioinformatics pipeline development,Pipeline optimisation

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