1. NCBI 资源
https://www.ncbi.nlm.nih.gov/genome/guide/human/
(GRCh38, GRCh37)
Reference Genome Sequence(Fasta)
RefSeq Reference Genome Annotation(gff3)
RefSeq Transcripts(Fasta)
RefSeq Proteins(Fasta)
ClinVar(vcf)
dbSNP(vcf)
dbVar(vcf)
1. NCBI 资源
https://www.ncbi.nlm.nih.gov/genome/guide/human/
(GRCh38, GRCh37)
Reference Genome Sequence(Fasta)
RefSeq Reference Genome Annotation(gff3)
RefSeq Transcripts(Fasta)
RefSeq Proteins(Fasta)
ClinVar(vcf)
dbSNP(vcf)
dbVar(vcf)