Article
Sequencing and annotated analysis of an Estonian human genome.
Gene - 1 Feb 2012
Lilleoja Rutt, Sarapik Aili, Reimann Ene, Reemann Paula, Jaakma Ülle, Vasar Eero, Kõks Sulev
Abstract excerpt
In present study we describe the sequencing and annotated analysis of the individual genome of Estonian. Using SOLID technology we generated 2,449,441,916 of 50-bp reads. The Bioscope version 1.3 was used for mapping and pairing of reads to the NCBI human genome reference (build 36, hg18). Bioscope enables also the annotation of the results of variant (tertiary) analysis. The average mapping of reads was 75.5%...
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