A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
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Published:2024
Issue:
Volume:2
Page:101863
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ISSN:2949-7744
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Container-title:Genetics in Medicine Open
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language:en
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Short-container-title:Genetics in Medicine Open
Author:
Schuy Jakob,
Sæther Kristine Bilgrav,
Lisfeld Jasmin,
Ek Marlene,
Grochowski Christopher M.,
Lun Ming Yin,
Hastie Alex,
Rudolph Susanne,
Fuchs Sigrid,
Neveling Kornelia,
Hempel Maja,
Hoischen Alexander,
Pettersson Maria,
Carvalho Claudia M.B.,
Eisfeldt Jesper,
Lindstrand AnnaORCID