J. Comput. Biol. - Reconstructing the history of large-scale genomic changes: biological questions and computational challenges.

Tópicos

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{ research(1085) discuss(1038) issu(1018) }
{ import(1318) role(1303) understand(862) }
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{ risk(3053) factor(974) diseas(938) }
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{ research(1218) medic(880) student(794) }
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{ implement(1333) system(1263) develop(1122) }
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{ age(1611) year(1155) adult(843) }
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Resumo

In addition to point mutations, larger-scale structural changes (including rearrangements, duplications, insertions, and deletions) are also prevalent between different mammalian genomes. Capturing these large-scale changes is critical to unraveling the history of mammalian evolution in order to better understand the human genome. It also has profound biomedical significance, because many human diseases are associated with structural genomic aberrations. The increasing number of mammalian genomes being sequenced as well as the recent advancement in DNA sequencing technologies are allowing us to identify these structural genomic changes with vastly greater accuracy. However, there are a considerable number of computational challenges related to these problems. In this article, we introduce the ancestral genome reconstruction problem, which enables us to explain the large-scale genomic changes between species in an evolutionary context. The application of these methods to within-species structural variation and disease genome analysis is also discussed. The target audience of this article is advanced undergraduate students in biology.

Resumo Limpo

addit point mutat largerscal structur chang includ rearrang duplic insert delet also preval differ mammalian genom captur largescal chang critic unravel histori mammalian evolut order better understand human genom also profound biomed signific mani human diseas associ structur genom aberr increas number mammalian genom sequenc well recent advanc dna sequenc technolog allow us identifi structur genom chang vast greater accuraci howev consider number comput challeng relat problem articl introduc ancestr genom reconstruct problem enabl us explain largescal genom chang speci evolutionari context applic method withinspeci structur variat diseas genom analysi also discuss target audienc articl advanc undergradu student biolog

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