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Sequence Assembly Release Notes - Homo sapiens HG00514_prelim_3.0

 This is a chromosome-level assembly of the HG00514 genome. HG00514_prelim_3.0 is a draft and represents a work in progress. It will subsequently be re-submitted with additional scaffold and/or chromosome structure. These ... updates are expected within a few months of the initial submission date.

 Background:

 The HG00514 DNA for shotgun sequencing is derived from the blood, b-lymphocytes cells, of an adult female from the Coriell Institute for Medical Research. The HG00514 genome is diploid and from a Southern Han Chinese pedigree SH032. 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 79.9X 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. This HG00514_prelim_3.0 version has been cleaned, and contigs 200bp and less were removed. The assembly is made up of contigs with an N50 contig length of 25.3Mb. The assembly spans 2.87Gb.

 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

 In the previous version, HG00514_prelim_2.1, 29 contigs were split and replaced by 59 new contigs. The suppressed contigs are NIOH01000006.1, NIOH01000022.1, NIOH01000133.1, NIOH01000203.1, NIOH01000242.1, NIOH01000248.1, NIOH01000279.1, NIOH01000282.1, NIOH01000283.1, NIOH01000292.1, NIOH01000319.1, NIOH01000338.1, NIOH01000358.1, NIOH01000365.1, NIOH01000412.1, NIOH01000415.1, NIOH01000422.1, NIOH01000451.1, NIOH01000514.1, NIOH01000601.1, NIOH01000609.1, NIOH01000611.1, NIOH01000631.1, NIOH01000665.1, NIOH01000681.1, NIOH01000782.1, NIOH01000821.1, NIOH01001018.1, NIOH01001196.1. The new contigs are NIOH01003161-NIOH01003219.  more

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