Additional file 3 of Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility

Additional file 3: Fig. S3. Representative IGV screenshots of alignments supporting two likely–false positive frameshift insertions. Panel A shows the alignment for PABPC1 NM_002568.4:c.1336_1337insACCTCATC and B for CIC NM_015125.4:c.4778_4779insGG. Red boxes indicate where the insertion would have...

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Hauptverfasser: Lee, Ning Yuan, Hum, Melissa, Amali, Aseervatham Anusha, Lim, Wei Kiat, Wong, Matthew, Myint, Matthew Khine, Tay, Ru Jin, Ong, Pei-Yi, Samol, Jens, Lim, Chia Wei, Ang, Peter, Tan, Min-Han, Lee, Soo-Chin, Lee, Ann S. G.
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Zusammenfassung:Additional file 3: Fig. S3. Representative IGV screenshots of alignments supporting two likely–false positive frameshift insertions. Panel A shows the alignment for PABPC1 NM_002568.4:c.1336_1337insACCTCATC and B for CIC NM_015125.4:c.4778_4779insGG. Red boxes indicate where the insertion would have been expected to appear, red arrows point to the soft-clipped alignments which support the existence these frameshift insertions. C Reads supporting the PABPC1 insertion map partially to both PABPC1 and PABPC3 (reverse complement) genes on reference genome loci NC_000008.10:101,719,206-101,719,234 and NC_000013.11:25,097,536-25,097,508, respectively.
DOI:10.6084/m9.figshare.21622869