GRCh38.p14 is now released!

GRCh38.p14 (GCA_000001405.29/GCF_000001405.40), the latest update to the human reference assembly, has been released! It adds 69 new patch scaffolds, 51 of which are FIX patches that update sequences on the GRCh38 reference chromosomes or alternate loci, while 18 are NOVEL patches, providing new alternate representations for complex genomic regions that are inadequately represented by a single sequence. Two previously released FIX patches were also updated. With this release, the reference assembly contains a total of 250 patch scaffolds (164 FIX, 90 NOVEL).30 of the patches included in this release include genome updates made in support of the MANE project, a joint NCBI-EBI effort to produce a minimal set of matching RefSeq and Ensembl transcripts of protein coding genes, creating a matched pair of transcripts but retaining their respective identifiers. Read more about MANE effort in their recentNature publication. The corresponding patch updates to the reference assembly involved changes addressing normal human variation as well as correcting errors in the underlying component sequences. Of the 53 FIX patches in GRCh38.p14, 23 of these correct errors in individual assembly component sequences, resulting in updates to 12 gene representations (Table 1). 20 are variation-related updates, 12 of which provide the coding allele for 13 polymorphic pseudogenes that are non-coding on the corresponding GRCh38 chromosomes (Table 2). Additionally, 2 provided sequence updates at ch...
Source: GenomeRef - Category: Genetics & Stem Cells Source Type: blogs