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A combination of long and short read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
Biology
Genetics
Molecular Biology
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Authors
Jakob Schuy
,
Kristine Sæther
Jasmin Lisfeld
,
Marlene Ek
,
Christopher Grochowski
,
Mingyue Lun
,
Alex Hastie
,
S Rudolph
,
Sigrid Fuchs
,
Kornelia Neveling
,
Maja Hempel
,
Alexander Hoischen
,
Maria Pettersson
,
Claudia Carvalho
,
Jesper Eisfeldt
,
Anna Lindstrand
+14 authors
,
Anna Wedell
Journal
Genetics in Medicine Open
Published
Jun 1, 2024
DOI
10.1016/j.gimo.2024.101863
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