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- W3157122502 abstract "Abstract The accurate and complete assembly of both haplotype sequences of a diploid organism is essential to understanding the role of variation in genome functions, phenotypes and diseases 1 . Here, using a trio-binning approach, we present a high-quality, diploid reference genome, with both haplotypes assembled independently at the chromosome level, for the common marmoset ( Callithrix jacchus ), an primate model system that is widely used in biomedical research 2,3 . The full spectrum of heterozygosity between the two haplotypes involves 1.36% of the genome—much higher than the 0.13% indicated by the standard estimation based on single-nucleotide heterozygosity alone. The de novo mutation rate is 0.43 × 10 −8 per site per generation, and the paternal inherited genome acquired twice as many mutations as the maternal. Our diploid assembly enabled us to discover a recent expansion of the sex-differentiation region and unique evolutionary changes in the marmoset Y chromosome. In addition, we identified many genes with signatures of positive selection that might have contributed to the evolution of Callithrix biological features. Brain-related genes were highly conserved between marmosets and humans, although several genes experienced lineage-specific copy number variations or diversifying selection, with implications for the use of marmosets as a model system." @default.
- W3157122502 created "2021-05-10" @default.
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- W3157122502 date "2021-04-28" @default.
- W3157122502 modified "2023-10-18" @default.
- W3157122502 title "Evolutionary and biomedical insights from a marmoset diploid genome assembly" @default.
- W3157122502 cites W127650315 @default.
- W3157122502 cites W128985141 @default.
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- W3157122502 cites W1496259696 @default.
- W3157122502 cites W1898738856 @default.
- W3157122502 cites W1962052762 @default.
- W3157122502 cites W1972442431 @default.
- W3157122502 cites W1975300971 @default.
- W3157122502 cites W1981301360 @default.
- W3157122502 cites W1987570618 @default.
- W3157122502 cites W1992991337 @default.
- W3157122502 cites W1994361447 @default.
- W3157122502 cites W2003744145 @default.
- W3157122502 cites W2008117561 @default.
- W3157122502 cites W2011072921 @default.
- W3157122502 cites W2011416154 @default.
- W3157122502 cites W2012012446 @default.
- W3157122502 cites W2014745897 @default.
- W3157122502 cites W2021341670 @default.
- W3157122502 cites W2025488812 @default.
- W3157122502 cites W2025673519 @default.
- W3157122502 cites W2031143669 @default.
- W3157122502 cites W2032362270 @default.
- W3157122502 cites W2040329227 @default.
- W3157122502 cites W2040756013 @default.
- W3157122502 cites W2061276429 @default.
- W3157122502 cites W2065577210 @default.
- W3157122502 cites W2074678950 @default.
- W3157122502 cites W2074830661 @default.
- W3157122502 cites W2075311272 @default.
- W3157122502 cites W2089920619 @default.
- W3157122502 cites W2099101209 @default.
- W3157122502 cites W2102230468 @default.
- W3157122502 cites W2102738779 @default.
- W3157122502 cites W2103441770 @default.
- W3157122502 cites W2106982327 @default.
- W3157122502 cites W2109183032 @default.
- W3157122502 cites W2110335151 @default.
- W3157122502 cites W2114545853 @default.
- W3157122502 cites W2120772351 @default.
- W3157122502 cites W2129008766 @default.
- W3157122502 cites W2138627181 @default.
- W3157122502 cites W2143892509 @default.
- W3157122502 cites W2159794180 @default.
- W3157122502 cites W2167994245 @default.
- W3157122502 cites W2185693210 @default.
- W3157122502 cites W2230143745 @default.
- W3157122502 cites W2300190949 @default.
- W3157122502 cites W2329595045 @default.
- W3157122502 cites W2422772473 @default.
- W3157122502 cites W2465440722 @default.
- W3157122502 cites W2538143681 @default.
- W3157122502 cites W2559249261 @default.
- W3157122502 cites W2612512656 @default.
- W3157122502 cites W2762091896 @default.
- W3157122502 cites W2765405812 @default.
- W3157122502 cites W2765748860 @default.
- W3157122502 cites W2766892303 @default.
- W3157122502 cites W2897774129 @default.
- W3157122502 cites W2904350464 @default.