Median Case Study - Optimizing Multi PCR Strat for Targeted…

Meridian’s qPCR mix outperformed the competitor—delivering reliable library prep from just 5 ng of gDNA, with fewer failures, higher fidelity, and cleaner sequencing results.

Figure 3: Sequencing Results from Amplified DNA Fragments A) SEQUENCING PERFORMANCE

Raw_reads

Clean_reads

Map_rate (%)

Targeted_rate (%)

Uniformity (>0.1x)

41,044,434

40,966,416

99.8

99.8

85.8

Commercial tNGS Kit

36,644,668

36,578,418

99.9

99.8

87.8

35,911,938

35,851,470

99.9

99.8

86.6

15,056,954

14,970,350

99.9

99.96

87.3

Direct DNA qPCR Blood Mix (MDX122)

23,806,042

23,710,302

99.9

99.7

88.7

16,411,848

16,312,476

99.9

99.6

89.7

B) VARIANT DETECTION

Lyo-Ready Direct DNA qPCR Blood Mix (MDX122)

Targeted Gene

cds

pos

Theoretical

Commercial tNGS Kit

BRACA1

c.3548A>G

17:43091983

7.5%

8.0%

7.8%

BRACA1

c.2458A>G

17:43092919

7.5%

8.8%

8.6%

BRACA1

c.2612C>T

17:4309291

15.0%

15.0%

14.3%

BRACA1

c.4327C>T

17:43082434

32.5%

32.8%

33.0%

BRACA1

c.4900A>G

17:43071077

32.5%

7.5%

7.6%

BRACA1

c.4258G>T

13:32338613

10.0%

31.3%

31.7%

BRACA2

c.8021dup

13:32363217

32.5%

8.3%

8.4%

BRACA2

c.5073del

13:32339421

40.0%

32.1%

32.6%

BRACA2

c.5351del

13:32339699

7.5%

37.0%

37.5%

BRACA2

c.86SA>C

13:32332343

7.5%

7.2%

7.3%

BRACA2

c.2971A>G

13:32337326

7.5%

6.6%

7.0%

BRACA2

c.7397T>C

13:3235525

100.0%

100.0%

99.6%

HORIZON BRCA Somatic Multiplex l gDNA Multiplex

Taken together, these findings confirm that Meridian’s Lyo-Ready Direct DNA qPCR Blood Mix (MDX122) effectively amplifies targeted DNA with high specificity and yield, producing high-quality sequencing libraries even from challenging sample types. The mix ensures reliable variant detection, particularly for low-frequency mutations, without compromising performance in a tNGS workflow. Figure 3. A) Sequencing reads of the commercial tNGS kit vs Meridian’s Lyo-Ready Direct DNA qPCR Blood Mix (MDX122); B) Variant detection in both groups. Both mixes show similar sequencing metrics with high mapping rates (>99%) and uniformity (>85%), reflecting consistent data quality. The observed allele frequencies in both mixes closely align with theoretical values for all variants, demonstrating accurate variant detection across experiments. Raw Reads (Raw_reads): Total raw reads generated from sequencing. Clean Reads (Clean_reads): Reads retained after filtering for quality. Mapping Rate (Map_rate%): Percentage of reads successfully mapped to the reference genome. Target Rate (Target_rate%): Percentage of reads aligned to the target regions. Uniformity (>0.1x): Measure of how evenly sequencing reads cover the target regions. CDS (Coding Sequence): Variants in the coding sequence. POS (Position): Genomic position of each variant. Theoretical: Expected allele frequency of the variant. Commercial tNGS Kit: Measured allele frequency in the control group. Lyo-Ready Direct DNA qPCR Mix (MDX122): Measured allele frequency in the experimental group. These findings validate that Meridian’s Lyo-Ready Direct DNA qPCR Blood (MDX122) provides precise and consistent amplification, supporting high-confidence variant mix detection in a targeted sequencing approach.

www.meridianbioscience.com/lifescience

5

Powered by