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High resolution measurement of DUF1220 domain copy number from whole genome sequence data

BACKGROUND: DUF1220 protein domains found primarily in Neuroblastoma BreakPoint Family (NBPF) genes show the greatest human lineage-specific increase in copy number of any coding region in the genome. There are 302 haploid copies of DUF1220 in hg38 (~160 of which are human-specific) and the majority...

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Publicat a:BMC Genomics
Autors principals: Astling, David P., Heft, Ilea E., Jones, Kenneth L., Sikela, James M.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5556342/
https://ncbi.nlm.nih.gov/pubmed/28807002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-017-3976-z
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