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Deconstructing the sources of genotype-phenotype associations in humans p. 1396

Mapping human cell phenotypes to genotypes with single-cell genomics p. 1401

Microbiomes as sources of emergent host phenotypes p. 1405

Translational genomics and precision medicine: Moving from the lab to the clinic p. 1409

sciencemag.org SCIENCE

THE MANIFESTATION OF

THE GENOMEBy Laura M. Zahn, Beverly A. Purnell, and Caroline Ash

Individuals show variability based

on their genotype and how it

interacts with the environment

to determine phenotype.

Published by AAAS

on May 27, 2020

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ownloaded from

27 SEPTEMBER 2019 • VOL 365 ISSUE 6460 1395SCIENCE sciencemag.org

The DNA within a human cell, known

as the genotype, provides a blueprint

to direct a host of processes for build-

ing an embodied organism. Although

we often treat the human genome as

if it is fi xed, there is a lot of variation

between individuals. The observable

human phenotype consists of multiple

traits resulting from many genetic vari-

ants within any single genome. Hair, eye and

skin color, height, build, and behavior all repre-

sent such polygenic traits. Many of these traits

can be modulated by our environment—for

instance, through exposure to stress, sunlight,

or microbes—resulting in a range of outcomes.

This special issue expands our view of

genotype and phenotype and explores recent

advances in understanding the factors that

infl uence the development of the human phe-

notype. We examine cases in which various

cells and traits are specifi ed by DNA mutation

or epigenetic changes, but we also highlight

cases in which phenotype is a ected by suites

of genes and gene products from commensal

bacteria. This special issue illustrates the di-

verse approaches that together are increasing

our understanding of the complex relation-

ship between genotype and phenotype, with

the potential to drive discoveries that pro-

mote human health.

Published by AAAS

on May 27, 2020

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The manifestation of the genomeLaura M. Zahn, Beverly A. Purnell and Caroline Ash

DOI: 10.1126/science.aaz4392 (6460), 1394-1395.365Science 

ARTICLE TOOLS http://science.sciencemag.org/content/365/6460/1394

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is a registered trademark of AAAS.ScienceScience, 1200 New York Avenue NW, Washington, DC 20005. The title (print ISSN 0036-8075; online ISSN 1095-9203) is published by the American Association for the Advancement ofScience

Science. No claim to original U.S. Government WorksCopyright © 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of

on May 27, 2020

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