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pro vyhledávání: '"Mohammed K, Javaid"'
Autor:
Alistair T, Pagnamenta, Jing, Yu, Julie, Evans, Philip, Twiss, Amaka C, Offiah, Mohamed, Wafik, Sarju G, Mehta, Mohammed K, Javaid, Sarah F, Smithson, L, Wilson
Publikováno v:
Journal of medical genetics.
Many genetic testing methodologies are biased towards picking up structural variants (SVs) that alter copy number. Copy-neutral rearrangements such as inversions are therefore likely to suffer from underascertainment. In this study, manual review pro