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Beschreibung

This Reference Material (RM) is intended to provide a whole human genome sample and accompanying reference values to assess performance of variant calling from genome sequencing. This RM contains human genomic deoxyribonucleic acid (DNA) extracted from a large growth of the human lymphoblastoid cell line GM12878. A unit of RM 8398 consists of a single vial containing approximately 10 ?g of genomic DNA, with the peak of the nominal length distribution longer than 48.5 kb, as referenced by Lambda DNA, and the DNA is in TE buffer (10 mM TRIS, pH 8.0, 1 mM EDTA, pH 8.0). Reference values are provided for single nucleotide polymorphisms (SNPs), small indels (insertions and deletions), and homozygous reference genotypes for approximately 77 % of the genome.