SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1756-994X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing ; volume:14 ; number:1 ; day:28 ; month:4 ; year:2022 ; pages:1-13 ; date:12.2022
Genome medicine ; 14, Heft 1 (28.4.2022), 1-13, 12.2022

Creator: Danis, Daniel
Jacobsen, Julius O. B.
Balachandran, Parithi
Zhu, Qihui
Yilmaz, Feyza
Reese, Justin
Haimel, Matthias
Lyon, Gholson J.
Helbig, Ingo
Mungall, Christopher J.
Beck, Christine R.
Lee, Charles
Smedley, Damian
Robinson, Peter N.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13073-022-01046-6

URN: urn:nbn:de:101:1-2022070819332394219197

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:23 AM CEST

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Associated

Danis, Daniel
Jacobsen, Julius O. B.
Balachandran, Parithi
Zhu, Qihui
Yilmaz, Feyza
Reese, Justin
Haimel, Matthias
Lyon, Gholson J.
Helbig, Ingo
Mungall, Christopher J.
Beck, Christine R.
Lee, Charles
Smedley, Damian
Robinson, Peter N.
SpringerLink (Online service)

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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

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