Literature DB >> 15190190

After the genome--the phenome?

C R Scriver1.   

Abstract

What next? The Human Genome Project signifies complexity rather than simplification in the relationship between genotype and phenotype. Genotypes are embedded in genomes. Individuality in phenotypes is embedded in components of the phenome (transcriptome, metabolome, proteome, etc.). The phenome, its layers, and its nodes, links and networks, require elucidation; there is a need for a Human Phenome Project (Freimer and Sabatti 2003). Biology has largely been a reductive science in the recent past; integrative biology lies ahead. Clinician-scientists (including human biochemical geneticists) will be recognized as key participants in the 'medical' Phenome Project as it reveals components of individuality, and their contributions, in simple or combinatorial fashion, to Mendelian and complex traits; better ways to treat 'genetic disease' will be by-products of the project. Although the Word is common to all, most men live as if each had a private wisdom of his own.Herakleitos

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Year:  2004        PMID: 15190190     DOI: 10.1023/B:BOLI.0000031100.26546.6e

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  52 in total

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3.  Systems biology. Life's complexity pyramid.

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4.  Nature, nurture and human disease.

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Journal:  Nature       Date:  2003-01-23       Impact factor: 49.962

Review 5.  Beyond Mendel: an evolving view of human genetic disease transmission.

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Journal:  Nat Rev Genet       Date:  2002-10       Impact factor: 53.242

Review 6.  Finding genes that underlie complex traits.

Authors:  Anne M Glazier; Joseph H Nadeau; Timothy J Aitman
Journal:  Science       Date:  2002-12-20       Impact factor: 47.728

7.  A vision for the future of genomics research.

Authors:  Francis S Collins; Eric D Green; Alan E Guttmacher; Mark S Guyer
Journal:  Nature       Date:  2003-04-14       Impact factor: 49.962

8.  Functional organization of the yeast proteome by systematic analysis of protein complexes.

Authors:  Anne-Claude Gavin; Markus Bösche; Roland Krause; Paola Grandi; Martina Marzioch; Andreas Bauer; Jörg Schultz; Jens M Rick; Anne-Marie Michon; Cristina-Maria Cruciat; Marita Remor; Christian Höfert; Malgorzata Schelder; Miro Brajenovic; Heinz Ruffner; Alejandro Merino; Karin Klein; Manuela Hudak; David Dickson; Tatjana Rudi; Volker Gnau; Angela Bauch; Sonja Bastuck; Bettina Huhse; Christina Leutwein; Marie-Anne Heurtier; Richard R Copley; Angela Edelmann; Erich Querfurth; Vladimir Rybin; Gerard Drewes; Manfred Raida; Tewis Bouwmeester; Peer Bork; Bertrand Seraphin; Bernhard Kuster; Gitte Neubauer; Giulio Superti-Furga
Journal:  Nature       Date:  2002-01-10       Impact factor: 49.962

9.  Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.

Authors:  P J Waters; M A Parniak; B R Akerman; A O Jones; C R Scriver
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10.  Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene.

Authors:  Avshalom Caspi; Karen Sugden; Terrie E Moffitt; Alan Taylor; Ian W Craig; HonaLee Harrington; Joseph McClay; Jonathan Mill; Judy Martin; Antony Braithwaite; Richie Poulton
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Journal:  J Genet       Date:  2014-12       Impact factor: 1.166

Review 2.  Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Authors:  Charles R Scriver
Journal:  J Inherit Metab Dis       Date:  2008-10-12       Impact factor: 4.982

3.  Co-clustering phenome-genome for phenotype classification and disease gene discovery.

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Review 4.  Genes and the eye.

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5.  Saturation of the human phenome.

Authors:  Mark E Samuels
Journal:  Curr Genomics       Date:  2010-11       Impact factor: 2.236

6.  Traditional medicine and genomics.

Authors:  Kalpana Joshi; Yogita Ghodke; Pooja Shintre
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7.  The hepatic transcriptome in human liver disease.

Authors:  Nicholas A Shackel; Devanshi Seth; Paul S Haber; Mark D Gorrell; Geoffrey W McCaughan
Journal:  Comp Hepatol       Date:  2006-11-07

8.  Network-based Phenome-Genome Association Prediction by Bi-Random Walk.

Authors:  MaoQiang Xie; YingJie Xu; YaoGong Zhang; TaeHyun Hwang; Rui Kuang
Journal:  PLoS One       Date:  2015-05-01       Impact factor: 3.240

9.  Mining phenotypes for gene function prediction.

Authors:  Philip Groth; Bertram Weiss; Hans-Dieter Pohlenz; Ulf Leser
Journal:  BMC Bioinformatics       Date:  2008-03-03       Impact factor: 3.169

  9 in total

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