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layout: news | ||
title: New tskit-related papers | ||
description: | | ||
A trio of papers in the prestigious journals Nature, Science, and Nature Genetics | ||
illustrate the power of tskit-based simulation and analysis to carry out | ||
genome-wide analysis of human genome data. These focus on deep human ancestry, | ||
recent human pedigrees, and statistical algorithms for biobank-scale datasets. | ||
image: ../assets/images/news/20230828-papers/quebec-thin.jpg | ||
timestamp: 2023-08-28 | ||
author: Yan Wong | ||
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# A trio of high-impact papers | ||
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In May and August 2023 the following papers, which make extensive use of tskit projects, were published: | ||
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#### A weakly structured stem for human origins in Africa – [<span class="link__text">Nature</span>](https://www.nature.com/articles/s41586-023-06055-y){:class="link--type-1--external"} | ||
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![Figure 3b: demographic plot of a weak stem with multiple mergers]({{ '/assets/images/news/20230828-papers/human-stem.jpg' | relative_url}}){:class="news-float-left" style="width: 12em;"} | ||
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A paper by [@apragsdale](https://github.com/apragsdale) and colleagues, who contribute to | ||
[msprime](https://tskit.dev/software/msprime.html) software development, uses msprime simulations | ||
(among other techniques) to argue for a complex history of structured subpopulations in deep human | ||
history. | ||
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#### On the genes, genealogies, and geographies of Quebec – [<span class="link__text">Science</span>](https://www.science.org/doi/10.1126/science.add5300){:class="link--type-1--external"} | ||
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![Figure 1b: Visualizing the ancestry of French Canadians across regions (x axis) over time]({{ '/assets/images/news/20230828-papers/quebec.jpg' | relative_url}}){:class="news-float-left" style="width: 12em;"} | ||
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This paper uses the recently implemented feature in [msprime](https://tskit.dev/software/msprime.html) | ||
to [simulate genetic transmission through a known pedigree](https://tskit.dev/msprime/docs/stable/ancestry.html#sec-ancestry-models-fixed-pedigree). | ||
In this case, a human pedigree based on 4 million Canadian genealogical records was used. | ||
Results highlight the multiple impacts of geography on human migration, and a freely available | ||
simulated whole-genome dataset of almost 1.5 million individuals is provided. | ||
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#### Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies – [<span class="link__text">Nature Genetics</span>](https://www.nature.com/articles/s41588-023-01487-8){:class="link--type-1--external"} | ||
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![Figure 2a: Accuracy and sparsity of the LDGM precision matrix]({{ '/assets/images/news/20230828-papers/LD.jpg' | relative_url}}){:class="news-float-left" style="width: 12em;"} | ||
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This paper shows how common statistical genetic algorithms, for example used in GWAS studies, can be both sped up | ||
and made more accurate by leveraging genetic genealogies inferred from real data by [tsinfer](https://tskit.dev/tsinfer/docs/stable/). |
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