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A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data

Autor
Graffelman, J.; Jain, D.; Weir, B.
Tipus d'activitat
Article en revista
Revista
Human genetics
Data de publicació
2017-04-03
Volum
136
Número
6
Pàgina inicial
727
Pàgina final
741
DOI
https://doi.org/10.1007/s00439-017-1786-7 Obrir en finestra nova
Repositori
http://hdl.handle.net/2117/104543 Obrir en finestra nova
URL
https://link.springer.com/article/10.1007%2Fs00439-017-1786-7 Obrir en finestra nova
Resum
Statistical tests for Hardy–Weinberg equilibrium have been an important tool for detecting genotyping errors in the past, and remain important in the quality control of next generation sequence data. In this paper, we analyze complete chromosomes of the 1000 genomes project by using exact test procedures for autosomal and X-chromosomal variants. We find that the rate of disequilibrium largely exceeds what might be expected by chance alone for all chromosomes. Observed disequilibrium is, in abo...
Citació
Graffelman, J., Jain, D., Weir, B. A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data. "Human genetics", 3 Abril 2017, vol. 136, núm. 6, p. 727-741.
Grup de recerca
COSDA-UPC - COmpositional and Spatial Data Analysis

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