Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Andy Pang
PROVIDER: E-GEOD-20284 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Genome biology 20100519 5
<h4>Background</h4>Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions (indels), the annotation of larger structural variants has been less comprehensive. It is still unclear to what extent a typical genome differs from the reference assembly, and the analysis of the genomes sequenced to date have shown varying results for copy number ...[more]