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Per the Ensembl README (ftp://ftp.ensembl.org/pub/grch37/current/fasta/homo_sapiens/dna/README):
Human has sequenced Y chromosomes and the pseudoautosomal region (PAR)
on the Y is annotated. By definition the PAR region is identical on the
X and Y chromosome. The Y chromosome file contains the Y chromsome
minus these repeated PAR regions i.e. the unique portion of Y.
If writing a VCF that contains Y chromosome PAR SNPs, the full Y chromosome reference sequence needs to be reconstructed using the PAR regions from X in order to determine the reference alleles.
The text was updated successfully, but these errors were encountered:
Per the Ensembl README (ftp://ftp.ensembl.org/pub/grch37/current/fasta/homo_sapiens/dna/README):
If writing a VCF that contains Y chromosome PAR SNPs, the full Y chromosome reference sequence needs to be reconstructed using the PAR regions from X in order to determine the reference alleles.
The text was updated successfully, but these errors were encountered: