Article

Single haplotype assembly of the human genome from a hydatidiform mole

2014-07-03

Abstract excerpt

<h4>ABSTRACT</h4> An accurate and complete reference human genome sequence assembly is essential for accurately interpreting individual genomes and associating sequence variation with disease phenotypes. While the current reference genome sequence is of very high quality, gaps and misassemblies remain due to biological and technical complexities. Large repetitive sequences and complex allelic diversity are the tw...

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Literature Corpus work: 35d52cff-acaf-56f7-8ffc-a8e64c61bb06
DOI: 10.1101/006841

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