mixing hg38 and GRCh38 during variant calling

mixing hg38 and GRCh38 during variant calling

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Hello everyone!

I’ve been working on a variant calling pipeline for WES data and used a mix of hg38 and GRCh38 reference files after reading that hg38 is just an abbreviation of GRCh38, and that they refer to the same thing. But now, I stumbled upon a post mentioning that the two use different coordinates.

I checked the coordinates of my files, and they all seem to agree with each other — is this a lucky coincidence? Am I risking running into potential issues by mixing hg38 with GRCh38?

More specifically, I used:

  1. GRCh38 genome (NCBI) to align my reads and restricted the alignments to those overlapping with an hg38 exome intervals list;
  2. GRCh38 known somatic mutations reference (dbSNP) for base recallibration;
  3. hg38 germline variation reference (gnomAD) and hg38 panel of normals (1000 genomes) during the variant calling;
  4. GRCh38 annotations

Thanks so much in advance 🙂


somatic


GATK


WES


NGS

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