How does variant callers deal with N in the reference sequence?
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5.9 years ago
pyjiang2 ▴ 40

If there is an N in the reference genome, after the variant calling pipeline, if an alternative base (A/T/G/C) is called at the same position, will it be output in the VCF? Or any variants with the N in the reference will be ignored? Thanks!

reference-genome variant-calling • 1.0k views
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5.9 years ago
JC 13k

In general, such positions are ignored.

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