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Figure 3 | BMC Bioinformatics

Figure 3

From: FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

Figure 3

Observed/Expected (O/E) number of shared SNVs after different stages of SOLiD and TruSeq sequencing data filtering. Mean (across families) O/E number of shared SNVs, assuming first-cousins share on average 12.5% of their DNA: (A) without further filtering, using the PE Bias Detector Tool only, the Rare and True Filter only, or both tools in five families in which sequencing was conducted using the SOLiD chemistry, and (B) without further filtering or using the Rare and True Filter in five families in which sequencing was performed using the TruSeq chemistry (see Results and discussion). Error bars indicate 95% confidence intervals. Data were processed according to Pre-FAVR bioinformatic processing then further FAVR filtering was applied as described in FAVR bioinformatic processing (see Methods).

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BMC Bioinformatics

ISSN: 1471-2105

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