108a8292fcf88caf44d11cc9b3dc3b9d1b3b8b29
donnak
Mon Apr 14 09:38:32 2014 -0700
Updated Miga et al., Raney et al., and a few other references to reflect latest publication status.
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-
Alternate sequences - Several human chromosomal regions exhibit sufficient
variability to prevent adequate representation by a single sequence. To address this, the
GRCh38 assembly provides alternate sequence for selected variant regions through the
inclusion of alternate loci scaffolds (or alt loci). Alt loci are
separate accessioned sequences that are aligned to reference chromosomes. This assembly
contains 261 alt loci, many of which are associated with the LRC/KIR area of chr19 and the
MHC region on chr6. (See the
sequences page for a complete list of the
reference chromosomes and alternate sequences in GRCh38.)
-
Centromere representation - Debuting in this release, the large megabase-sized gaps
that were previously used to represent centromeric regions in human assemblies have been
replaced by sequences from centromere models created by
- Karen Miga et al., using centromere databases developed during her
work in the Willard lab at
Duke University and analysis software developed while working in the
Kent lab at UCSC.
The models, which provide the
approximate repeat number and order for each centromere, will be useful for read mapping
and variation studies.
-
Mitochondrial genome - The mitochondrial reference sequence included in the GRCh38
assembly and hg38 Genome Browser (termed "chrM" in the browser) is the
Revised Cambridge Reference Sequence (rCRS) from
MITOMAP with GenBank accession
number J01415.2 and RefSeq accession number NC_012920.1. This differs from the chrM