After the genome - the phenome?

被引：38

作者：

Scriver, CR

机构：

[1] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Biol, Montreal, PQ H3H 1P3, Canada

[2] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Human Genet, Montreal, PQ H3H 1P3, Canada

[3] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Pediat, Montreal, PQ H3H 1P3, Canada

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2004年 / 27卷 / 03期

关键词：

D O I：

10.1023/B:BOLI.0000031100.26546.6e

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：305 / 317

页数：13

共 62 条

[51] Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics [J].

Scriver, CR .

JOURNAL OF PEDIATRICS, 2002, 140 (05) :502-506

[52] Genomics, mutations and the Internet: The naming and use of parts [J].

Scriver, CR ;

Nowacki, PM .

JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (04) :519-530

[53] Garrod's foresight; our hindsight [J].

Scriver, CR .

JOURNAL OF INHERITED METABOLIC DISEASE, 2001, 24 (02) :93-116

[54]

SCRIVER CR, 1993, T R SOC CANADA, V4, P3

[55]

SCRIVER CR, 2003, AM SOC HUMAN GENETIC

[56] Thermodynamics - old laws in medicine and complex disease [J].

Strohman, R .

NATURE BIOTECHNOLOGY, 2003, 21 (05) :477-479

[57] Systematic genetic analysis with ordered arrays of yeast deletion mutants [J].

Tong, AHY ;

Evangelista, M ;

Parsons, AB ;

Xu, H ;

Bader, GD ;

Pagé, N ;

Robinson, M ;

Raghibizadeh, S ;

Hogue, CWV ;

Bussey, H ;

Andrews, B ;

Tyers, M ;

Boone, C .

SCIENCE, 2001, 294 (5550) :2364-2368

[58] The sequence of the human genome [J].

Venter, JC ;

Adams, MD ;

Myers, EW ;

Li, PW ;

Mural, RJ ;

Sutton, GG ;

Smith, HO ;

Yandell, M ;

Evans, CA ;

Holt, RA ;

Gocayne, JD ;

Amanatides, P ;

Ballew, RM ;

Huson, DH ;

Wortman, JR ;

Zhang, Q ;

Kodira, CD ;

Zheng, XQH ;

Chen, L ;

Skupski, M ;

Subramanian, G ;

Thomas, PD ;

Zhang, JH ;

Miklos, GLG ;

Nelson, C ;

Broder, S ;

Clark, AG ;

Nadeau, C ;

McKusick, VA ;

Zinder, N ;

Levine, AJ ;

Roberts, RJ ;

Simon, M ;

Slayman, C ;

Hunkapiller, M ;

Bolanos, R ;

Delcher, A ;

Dew, I ;

Fasulo, D ;

Flanigan, M ;

Florea, L ;

Halpern, A ;

Hannenhalli, S ;

Kravitz, S ;

Levy, S ;

Mobarry, C ;

Reinert, K ;

Remington, K ;

Abu-Threideh, J ;

Beasley, E .

SCIENCE, 2001, 291 (5507) :1304-+

[59] Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme:: A mechanism underlying phenylketonuria [J].

Waters, PJ ;

Parniak, MA ;

Akerman, BR ;

Jones, AO ;

Scriver, CR .

JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (03) :208-212

[60] MOLECULAR STRUCTURE OF NUCLEIC ACIDS - A STRUCTURE FOR DEOXYRIBOSE NUCLEIC ACID [J].

WATSON, JD ;

CRICK, FHC .

NATURE, 1953, 171 (4356) :737-738

← 1 2 3 4 5 6 7 →