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Comment

This chromosome-level assembly of the NA12878 genome, NA12878_prelim_3.0, is a draft and represents a work in progress. It will subsequently be re-submitted with BACs incorporated into regions of the genome that are difficult to assemble. Also, single allelic representations ... of specific regions will be added when available.
Sequence Assembly Release Notes for Homo sapiens NA12878_prelim_3.0
 Background:
 DNA used for shotgun sequencing is derived from the blood, b-lymphocytes cells, of an adult female, identified as NA12878 (Coriell Institute for Medical Research). The NA12878 genome is diploid and from a CEPH/UTAH pedigree 1463. Sequence from this project will be used to improve the contiguity of the human reference sequence and add diverse allelic variation.
 Total sequence (subreads) input coverage on the PacBio RS II instrument was 70x prior to error correction using a genome size estimate of 3Gb. The combined sequence reads were assembled using the Falcon software, and then error corrected using the Quiver and Pilon algorithms. Contigs of 200 bp or less have been excluded from NA12878_prelim_3.0.
 This work was supported by the NHGRI 'Improving The Human Reference Genome Resource' grant no. 5U41HG007635 to Richard K. Wilson, at the McDonnell Genome Institute, Washington University School of Medicine.
 DNA Source Contact: Dr. Fedik Rahimov, at the Coriell Institute for Medical Research.

24 contigs have been split and replaced by 52 new contigs, so there are only 3663 live contigs.  more

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