Efficient phasing and imputation of low-coverage sequencing data using large reference panels

Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable...

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Veröffentlicht in:	Nature genetics 2021-01, Vol.53 (1), p.120-126
Hauptverfasser:	Rubinacci, Simone, Ribeiro, Diogo M., Hofmeister, Robin J., Delaneau, Olivier
Format:	Artikel
Sprache:	eng
Schlagworte:	38/23 38/61 45/43 631/114/1314 631/114/2785 631/208/457 631/208/514/1948 Accuracy Agriculture Animal Genetics and Genomics Arrays Biomedical and Life Sciences Biomedicine Cancer Research Competitiveness Computer applications Computing costs Datasets Design DNA sequencing Electronic data processing Frequency ranges Gene expression Gene frequency Gene Function Gene sequencing Genetics Genome, Human Genomes Genotype Genotype & phenotype Genotyping Haplotypes Human Genetics Human populations Humans Likelihood Functions Methods Nucleotide sequencing Panels Polymorphism, Single Nucleotide - genetics Population genetics Population studies Reference Standards Sequence Analysis, DNA Single-nucleotide polymorphism technical-report Whole genome sequencing
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