Personal genomes: The case of the missing heritability
By B. Maher. Nature, 2008
1,734 citations recorded by the source corpus.
Subfields: Genetics
View Paper: https://www.semanticscholar.org/paper/afcc8497b911811d7df66878418870a3fc648ee9
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Genetics
- Matthew Stephens
- Peter M. Visscher
- Michael E. Goddard
- Naomi R. Wray
- Jian Yang
- Ian J. Deary
- Jean-Luc Jannink
- Robert Plomin
Citations in the corpus
- Epigenetics as a unifying principle in the aetiology of complex traits and diseases (2010, background): “An informative example is height: height is 80–90p heritable, but the 40 loci that have been detected in genome-wide association studies together account for less than 5p of heritability for heigh”
- A variational Bayes algorithm for fast and accurate multiple locus genome-wide association analysis (2010, background): “Since loci with weaker associations may contribute to a portion of the so-called ‘ missing ’ or ‘ dark ’ heritability [5-7], multiple locus analyses have the potential to provide a more complete picture of heritable variation.”
- Beyond DNA: integrating inclusive inheritance into an extended theory of evolution (2011, result): “This became strikingly obvious when genome-wide association studies (GWA studies) showed that most of the high heritabilities for phenotypic traits, such as height or common human diseases, could not be explained by common genetic variant”
- Rare Variants Create Synthetic Genome-Wide Associations (2010, result): “On balance, therefore, our results suggest that even though the apparent impact of common variants is only modest for many traits [6,22,23], this impact may have been systematically overestimated [24].”
- Common disorders are quantitative traits (2009, background): “We do not address the GWA debates about common versus rare variants or about 'missing heritability”
- Estimating Effects and Making Predictions from Genome-Wide Marker Data (2010, background): “This is disappointing and typical of other traits, leading to the question “Where are the missing genes?” [34].”
- Common SNPs explain a large proportion of heritability for human height (2010, background): “Where is the missing heritability, the so-called dark matter of the genom”
- Genetic foundations of human intelligence (2009, background): “Intelligence is not unusual in the difficulties it has found in trying to identify the genes responsible for its high heritability (Maher 2008).”
- Genetics of bipolar disorder. (2011, background): “Still, the current findings might shed some light on the biology of BPD [see (Maher 2008) for a general review on small effect sizes and GWAS].”
- Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease, and shows evidence for additional susceptibility genes (2009, background): “is correct, additional genetic susceptibility loci remain to be identified, which is also true for many other diseases in which loci have been successfully mapped by GW”