Genetic heterogeneity in human disease.

By J. McClellan, M. King. Cell, 2010

1,010 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/12e561e2ed52602d89d2f7f21aac6896ad83a45f

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In Genetics

Citations in the corpus

Rare de novo and transmitted copy-number variation in autistic spectrum disorders. (2011, neutral): “There are good reasons for this, both theoretical and practical (Xu et al., 2008; McClellan and King, 2010).”
Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs (2012, background): “, and the relative importance of common causal variants remains controversia”
Using bioinformatics to predict the functional impact of SNVs (2011, background): “For example, arginine to cysteine substitution has a non-conservative BLOSUM score, but this substitution should be treated differently at a position invariant for arginine versus a position where arginine and cysteine are both seen in protein family members.”
The genetics of Alzheimer disease: back to the future. (2010, background): “However, several landmark, proof-of-principle projects have already been completed that can be regarded as initial reference (reviewed in Manolio et al., 2009; McClellan and King, 2010).”
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (2015, background): “Common, complex risk alleles typically confer low relative risk and are meager in their predictive power.(53) To date, the utility of common, complex risk allele testing for patient care(54) has been unclear and models to combine multiple markers into a cumulative risk score are often flawed and are”
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses (2011, background): “nucleotide mutations and structural genomic variations (McClellan and King, 2010).”
Exome sequencing as a tool for Mendelian disease gene discovery (2011, neutral): “Furthermore, little is known about the extent to which rare alleles contribute to the heritability of complex traits 6 .”
Genome-partitioning of genetic variation for complex traits using common SNPs (2011, background): “Experimental designs to discover causal variants that are in LD with common SNPs and those that interrogate less common or rare variants are complementary, and recent publications that suggest that all or most variation for disease is to be found in less common or rare (coding) variant”