Literature DB >> 15164052

Quality assessment of the human genome sequence.

Jeremy Schmutz1, Jeremy Wheeler, Jane Grimwood, Mark Dickson, Joan Yang, Chenier Caoile, Eva Bajorek, Stacey Black, Yee Man Chan, Mirian Denys, Julio Escobar, Dave Flowers, Dea Fotopulos, Carmen Garcia, Maria Gomez, Eidelyn Gonzales, Lauren Haydu, Frederick Lopez, Lucia Ramirez, James Retterer, Alex Rodriguez, Stephanie Rogers, Angelica Salazar, Ming Tsai, Richard M Myers.   

Abstract

As the final sequencing of the human genome has now been completed, we present the results of the largest examination of the quality of the finished DNA sequence. The completed study covers the major contributing sequencing centres and is based on a rigorous combination of laboratory experiments and computational analysis.

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Year:  2004        PMID: 15164052     DOI: 10.1038/nature02390

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  52 in total

1.  Scalable synthesis of sequence-defined, unimolecular macromolecules by Flow-IEG.

Authors:  Frank A Leibfarth; Jeremiah A Johnson; Timothy F Jamison
Journal:  Proc Natl Acad Sci U S A       Date:  2015-08-12       Impact factor: 11.205

Review 2.  Precision Medicine for Heart Failure: Lessons From Oncology.

Authors:  Arthur M Feldman; Christopher D Kontos; Joseph M McClung; Glenn S Gerhard; Kamel Khalili; Joseph Y Cheung
Journal:  Circ Heart Fail       Date:  2017-06       Impact factor: 8.790

3.  Towards a hermeneutic of technomedical objects.

Authors:  Kjetil Rommetveit
Journal:  Theor Med Bioeth       Date:  2008-06-25

4.  Identification of deleterious mutations within three human genomes.

Authors:  Sung Chun; Justin C Fay
Journal:  Genome Res       Date:  2009-07-14       Impact factor: 9.043

5.  Accurate and comprehensive sequencing of personal genomes.

Authors:  Subramanian S Ajay; Stephen C J Parker; Hatice Ozel Abaan; Karin V Fuentes Fajardo; Elliott H Margulies
Journal:  Genome Res       Date:  2011-07-19       Impact factor: 9.043

Review 6.  Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity.

Authors:  Yamunah Devi Apalasamy; Zahurin Mohamed
Journal:  Hum Genet       Date:  2015-02-17       Impact factor: 4.132

7.  [Big Data Revolution or Data Hubris? : On the Data Positivism of Molecular Biology].

Authors:  Gabriele Gramelsberger
Journal:  NTM       Date:  2017-12

8.  Analysis of human mRNAs with the reference genome sequence reveals potential errors, polymorphisms, and RNA editing.

Authors:  Terrence S Furey; Mark Diekhans; Yontao Lu; Tina A Graves; Lachlan Oddy; Jennifer Randall-Maher; LaDeana W Hillier; Richard K Wilson; David Haussler
Journal:  Genome Res       Date:  2004-10       Impact factor: 9.043

9.  SRRM2, a potential blood biomarker revealing high alternative splicing in Parkinson's disease.

Authors:  Lina A Shehadeh; Kristine Yu; Liyong Wang; Alexandra Guevara; Carlos Singer; Jeffery Vance; Spyridon Papapetropoulos
Journal:  PLoS One       Date:  2010-02-08       Impact factor: 3.240

10.  ALLPATHS 2: small genomes assembled accurately and with high continuity from short paired reads.

Authors:  Iain Maccallum; Dariusz Przybylski; Sante Gnerre; Joshua Burton; Ilya Shlyakhter; Andreas Gnirke; Joel Malek; Kevin McKernan; Swati Ranade; Terrance P Shea; Louise Williams; Sarah Young; Chad Nusbaum; David B Jaffe
Journal:  Genome Biol       Date:  2009-10-01       Impact factor: 13.583

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