Depth evaluation of LP GS (IMAGE)

BGI Genomics

Depth evaluation of LP GS

Caption

Depth evaluation of LP GS. (A) Total detection sensitivity of LP GS for 155 CNVs. The dotted green line shows the optimal UAHRs (25 M). (B)Evaluation of the performance of LP GS using samples with 25 M UAHRs. For the 30 samples with positive CMA results, the left bar figure shows the number of P/LP CNVs detected by CMA (blue bar), the number of concordant CNVs detected by LP GS using total UAHRs (orange bar) and samples with 25 M UAHRs (grey bar) compared with CMA. For the 244 samples with negative CMA results, the right bar figure shows the number of VUS CNVs (>100 kb) detected by CMA (blue bar), LP GS using total UAHRs (orange bar) and LP GS using samples with 25 M UAHRs (grey bar).

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BGI Genomics

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