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An Algorithm for Sequence Location Approximation using Nuclear Families (ASLAN) Validates Regions of the Telomere-to-Telomere Assembly and Identifies New Hotspots for Genetic Diversity

2022-08-03

Abstract excerpt

1 Although it is heavily relied on to study genetic contributors to health and disease, the current human reference genome (GRCh38) is incomplete in two major ways: firstly, it is missing large sections of heterochromatic sequence, and secondly, as a singular, linear reference genome it does not represent the full spectrum of genetic diversity that exists in the human species. In order to better understand and cha...

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Literature Corpus work: cb9aa7e7-1dc7-5fe4-a4bf-29efcbada3e1
DOI: 10.1101/2022.08.02.502486

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