E. Burchard

Publications404
h-index72
Citations31,465
Highly Influential Citations1,439
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A global reference for human genetic variation
  • Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, A. Auton, Shane A. McCarthy
  • Biology
    Nature
  • 30 September 2015
TLDR
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin action.
TLDR
The data indicate that OCT1 is important for metformin therapeutic action and that genetic variation in OCT1 may contribute to variation in response to the drug.
Categorization of humans in biomedical research: genes, race and disease
TLDR
An epidemiologic perspective on the issue of human categorization in biomedical and genetic research that strongly supports the continued use of self-identified race and ethnicity is provided.
The importance of race and ethnic background in biomedical research and clinical practice.
TLDR
With the completion of a rough draft of the human genome, some have suggested that racial classification may not be useful for biomedical studies, since it reflects “a fairly small number of genes that describe appearance” and “there is no basis in the genetic code for race.
Fast and accurate inference of local ancestry in Latino populations
TLDR
Methods for local ancestry inference which leverage the structure of linkage disequilibrium in the ancestral population, and incorporate the constraint of Mendelian segregation when inferring local ancestry in nuclear family trios (LAMP-HAP) are introduced.
PCA-Correlated SNPs for Structure Identification in Worldwide Human Populations
TLDR
A novel algorithm is presented that is effectively used for the analysis of admixed populations without having to trace the origin of individuals, and can be easily applied on large genome-wide datasets, facilitating the identification of population substructure, stratification assessment in multi-stage whole-genome association studies, and the study of demographic history in human populations.
Interaction of Methotrexate with Organic-Anion Transporting Polypeptide 1A2 and Its Genetic Variants
TLDR
The interaction of MTX with human organic-anion transporting polypeptide transporter (OATP) 1A2, which is expressed in tissues important for MTX disposition and toxicity, is characterized and suggests that OATP1A2 may play a role in active tubular reabsorption ofMTX and in MTX-induced toxicities.
The genetics of Mexico recapitulates Native American substructure and affects biomedical traits
TLDR
Pre-Columbian genetic substructure is recapitulated in the indigenous ancestry of admixed mestizo individuals across the country, and two independently phenotyped cohorts of Mexicans and Mexican Americans showed a significant association between subcontinental ancestry and lung function.
Recent genetic selection in the ancestral admixture of Puerto Ricans.
TLDR
A novel approach for studying selection is presented by examining the genomewide distribution of ancestry in the genetically admixed Puerto Ricans by finding strong statistical evidence of recent selection in three chromosomal regions, including the human leukocyte antigen region on chromosome 6p, chromosome 8q, and chromosome 11q.
Comparing Genetic Ancestry and Self-Described Race in African Americans Born in the United States and in Africa
TLDR
The findings suggest that self-reported race and ancestry can predict ancestral clusters but do not reveal the extent of admixture, and that genetic classifications of ancestry may provide a more objective and accurate method of defining homogenous populations for the investigation of specific population-disease associations.
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