panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics
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Published in Human mutation (01.07.2017)
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Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome
Watson, Christopher M., Crinnion, Laura A., Tzika, Antigoni, Mills, Alison, Coates, Andrea, Pendlebury, Maria, Hewitt, Sarah, Harrison, Sally M., Daly, Catherine, Roberts, Paul, Carr, Ian M., Sheridan, Eamonn G., Bonthron, David T.
Published in American journal of medical genetics. Part A (01.10.2014)
Published in American journal of medical genetics. Part A (01.10.2014)
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Journal Article