%0 Journal Article %1 delaneau2019accurate %A Delaneau, Olivier %A Zagury, Jean-François %A Robinson, Matthew R. %A Marchini, Jonathan L. %A Dermitzakis, Emmanouil T. %D 2019 %J Nature Communications %K haplotype_inference methods phasing %N 1 %P 5436-- %R 10.1038/s41467-019-13225-y %T Accurate, scalable and integrative haplotype estimation %U https://doi.org/10.1038/s41467-019-13225-y %V 10 %X The number of human genomes being genotyped or sequenced increases exponentially and efficient haplotype estimation methods able to handle this amount of data are now required. Here we present a method, SHAPEIT4, which substantially improves upon other methods to process large genotype and high coverage sequencing datasets. It notably exhibits sub-linear running times with sample size, provides highly accurate haplotypes and allows integrating external phasing information such as large reference panels of haplotypes, collections of pre-phased variants and long sequencing reads. We provide SHAPEIT4 in an open source format and demonstrate its performance in terms of accuracy and running times on two gold standard datasets: the UK Biobank data and the Genome In A Bottle.

@article{delaneau2019accurate, abstract = {The number of human genomes being genotyped or sequenced increases exponentially and efficient haplotype estimation methods able to handle this amount of data are now required. Here we present a method, SHAPEIT4, which substantially improves upon other methods to process large genotype and high coverage sequencing datasets. It notably exhibits sub-linear running times with sample size, provides highly accurate haplotypes and allows integrating external phasing information such as large reference panels of haplotypes, collections of pre-phased variants and long sequencing reads. We provide SHAPEIT4 in an open source format and demonstrate its performance in terms of accuracy and running times on two gold standard datasets: the UK Biobank data and the Genome In A Bottle.}, added-at = {2021-07-09T21:37:07.000+0200}, author = {Delaneau, Olivier and Zagury, Jean-François and Robinson, Matthew R. and Marchini, Jonathan L. and Dermitzakis, Emmanouil T.}, biburl = {https://www.bibsonomy.org/bibtex/2cb3d9e73e219a12a0b554dd0b7e257b5/peter.ralph}, doi = {10.1038/s41467-019-13225-y}, interhash = {eba97b13f7bd39eee94414647ede2166}, intrahash = {cb3d9e73e219a12a0b554dd0b7e257b5}, issn = {20411723}, journal = {Nature Communications}, keywords = {haplotype_inference methods phasing}, number = 1, pages = {5436--}, refid = {Delaneau2019}, timestamp = {2021-07-09T21:37:07.000+0200}, title = {Accurate, scalable and integrative haplotype estimation}, url = {https://doi.org/10.1038/s41467-019-13225-y}, volume = 10, year = 2019 }