@misc{indiciaeede000fa450c,
  title = {Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.},
  author = {Alba Sanchis-Juan and Yulia Mostovoy and Sarah L Stenton and Vijay S Ganesh and Ben Weisburd and Alex Yenkin and Nehir E Kurtas and Xuefang Zhao and Eren Shin and Philip M Boone and Hang Su and Arthur S Lee and Rachita Yadav and Kirsten Allan and Emanuela Argilli and Christina Austin-Tse and Brenda J Barry and Samantha Baxter and Alan H Beggs and Katrina M Bell and Benjamin Blankenmeister and Carsten G B\&\#xf6;nnemann and Catherine A Brownstein and Kinga M Bujakowska and Elizabeth Carbonell and Sandra T Cooper and Laura E Covill and Stephanie DiTroia and Sandra Donkervoort and Elizabeth C Engle and Lyndon Gallacher and Casie A Genetti and Joseph G Gleeson and Bin Guan and Stacey Hall and Friedhelm Hildebrandt and Robert B Hufnagel and Julie A Jurgens and Akanksha Khorgade and Gabrielle Lemire and Emily Liau and Jialan Ma and Jill A Madden and Brian Mangilog and Brandy M McNulty and Olfa Messaoud and Shloka Negi and Emily O'Heir and Melanie C O'Leary and Ikeoluwa Osei-Owusu and Katrin \&\#xd5;unap and Lynn Pais and Sander Pajusalu and Alicia Pham and Eric A Pierce and Emma Pierce-Hoffman and Gianina Ravenscroft and Tony Roscioli and Vijay G Sankaran and Jillian Serrano and Elliott H Sherr and Shirlee Shril and Moriel Singer-Berk and Hana Snow and Volker Straub and Derek Tai and Tiong Y Tan and Ana T\&\#xf6;pf and Ehsan Ullah and Grace VanNoy and Ivo Violich and Mark Walker and Susan M White and Monica H Wojcik and Emma Mitchell and Aziz M Al'Khafaji and Sheila Dodge and Kiran Garimella and Niall J Lennon and Stacey B Gabriel and Karen H Miga and Benedict Paten and Heidi L Rehm and Anne O'Donnell-Luria and Harrison Brand and Michael E Talkowski},
  year = {2026},
  doi = {10.64898/2026.06.22.26356238},
  url = {https://pubmed.ncbi.nlm.nih.gov/42396270/},
  note = {Source identifier: 42396270}
}