hg19 (GRCh37) 与 hg38 (GRCh38) 数据差异比较.pptx

hg19 (GRCh37) vs. hg38 (GRCh38)Human Genome Reference ComparisonZuotian TatumDepartment of Human GeneticsLeiden University Medical CenterTimeline/projects/genome/assembly/grc/human/data/GRCh38:First release: Dec 24, 2013Latest patch: Oct 14, 2014 (p1)GRCh37:First release: Feb 27, 2009Latest patch: Jun 28, 2013 (p13)Content/projects/genome/assembly/grc/human/data/GRCh38.p2:Total bases: 3.21 Billion3.05 Billion (without N)N50: 67 MillionNumber of alternative loci :261Non-nuclear genome:YesGRCh37.p13:Total bases: 3.23 Billion2.99 Billion (without N)N50: 46 MillionNumber of alternative loci:9Non-nuclear genome:NoUCSC tracks for GRCh38UCSC RefSeq available since April 2014.Ensembl regulatory build available since September 2014.dbSNP 141 available since October 2014.ENCODE and FANTOM5 track hubs are still not available (Nov 2014).New in GRCh38 releaseThree new sequence files, in addition to the standard assembly files:- GCA_000001405.15_GRCh38_top-level.fna.gz- GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.gz- GCA_000001405.15_GRCh38_full_analysis_set.fna.gzThe analysis set files are created to avoid false mapping in NGS alignment pipelines.GCA_000001405.15_GRCh38_top-level.fna.gzAll the top-level objects in the full-assemblyChromosomesunlocalized scaffoldsunplaced scaffoldsalternate locus scaffoldsmitochondrial genome The sequence identifiers are International Sequence Database Collaboration (INSDC) accession.versions and the definition lines are GenBank style.No sequences have been hard-masked.GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.gzChromosomes from the GRCh38 Primary Assembly unit.Note: the two PAR regions on chrY have been hard-masked with Ns. The chromosome Y sequence provided therefore has the same coordinates as the GenBank sequence but it is not identical to the GenBank sequence. Similarly, duplicate copies of centromeric arrays and WGS on chromosomes 5, 14, 19, 21 22 have been hard-masked with Ns.Mitochondrial genome from the GRCh38 non-nuclear asse