search

ncbi / dbsnp

dbSNP
https://www.ncbi.nlm.nih.gov/snp
127 stars 47 forks source link

WGS and WES data bias in dbSNP v151 #14

Closed chunjie-sam-liu closed 4 years ago

chunjie-sam-liu commented 4 years ago

I'm wondering that the SNP density differences in Intron and Exon. In our analysis, SNP density in Exons is higher than Introns, but in principle, Exons are more conserved than Introns. How could this happen? Is the WGS and WES data bias in dbSNP?

TOPMED, GnomAD, 1000 Genomes, ExAC and GO-SEP these datasets contribute large amount of SNP to dbSNP. Which of them have no data bias?

Thanks