The sequence and analysis of duplication-rich human chromosome 16

@article{Martin2004TheSA,
  title={The sequence and analysis of duplication-rich human chromosome 16},
  author={Joel A. Martin and Cliff Han and Laurie A. Gordon and Astrid Y Terry and Shyam Prabhakar and Xinwei She and Gary Xie and Uffe Hellsten and Yee Man Chan and Michael R. Altherr and Olivier Couronne and Andrea Aerts and Eva S. Bajorek and Stacey Black and Heather Blumer and Elbert Branscomb and Nancy C. Brown and William J. Bruno and J M Buckingham and David F Callen and Connie S. Campbell and Mary L. Campbell and Evelyn W. Campbell and Chenier Caoile and Jean F. Challacombe and Leslie A. Chasteen and Olga Chertkov and H C Chi and Mari Christensen and Lynn M. Clark and Judith D. Cohn and Mirian E. Denys and John C. Detter and Mark C Dickson and Mira Dimitrijevic-Bussod and Julio Escobar and J J Fawcett and Dave Flowers and Dea Fotopulos and Tijana Glavina and Mar{\'i}a G{\'o}mez and Eidelyn Gonzales and David Goodstein and Lynne A. Goodwin and Deborah L. Grady and Igor V. Grigoriev and Matthew Groza and Nancy Hammon and Trevor L. Hawkins and Lauren E. Haydu and C. E. Hildebrand and Wayne Huang and Sanjay Israni and Jamie Jett and Phillip B. Jewett and Kristen Kadner and Heather L Kimball and Arthur Kobayashi and M. Krawczyk and Tina Leyba and Jonathan Longmire and Frederick J. Lopez and Yunian Lou and Steve Lowry and Thom Ludeman and Chitra F. Manohar and Graham A. Mark and Kimberly McMurray and Linda J. Meincke and Jenna L. Morgan and Robert K. Moyzis and Mark Mundt and A. Christine Munk and Richard D. Nandkeshwar and Sam Pitluck and Martin J. Pollard and Paul F. Predki and Beverly Parson-Quintana and Lucia Ramirez and Sam Rash and James Retterer and D Ricke and Donna L. Robinson and Alex C Rodriguez and Asaf A. Salamov and Elizabeth H. Saunders and Duncan Scott and Timothy Shough and Raymond L. Stallings and Malinda Stalvey and Robert D. Sutherland and Roxanne Tapia and Judith G. Tesmer and Nina Thayer and Linda S. Thompson and Hope N. Tice and David C. Torney and Mary Bao Tran-Gyamfi and Ming Tsai and Levy E. Ulanovsky and Anna Ustaszewska and Nu T. Vo and P. Scott White and Albert L. Williams and Patricia L. Wills and Jiang Wu and Kevin Wu and Joan Xiaohui Yang and Pieter J. Dejong and David G. Bruce and Norman A. Doggett and Larry L. Deaven and Jeremy Schmutz and Jane Grimwood and Paul G. Richardson and Daniel S. Rokhsar and Evan E. Eichler and Paul Gilna and Susan M. Lucas and Richard M. Myers and Edward M. Rubin and Len A. Pennacchio},
  journal={Nature},
  year={2004},
  volume={432},
  pages={988-994}
}
Human chromosome 16 features one of the highest levels of segmentally duplicated sequence among the human autosomes. We report here the 78,884,754 base pairs of finished chromosome 16 sequence, representing over 99.9% of its euchromatin. Manual annotation revealed 880 protein-coding genes confirmed by 1,670 aligned transcripts, 19 transfer RNA genes, 341 pseudogenes and three RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes… Expand
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BackgroundRecently duplicated genes are often subject to genomic rearrangements that can lead to the development of novel gene structures. Here we specifically investigated the effect of variationsExpand
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