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benjeffery authored Oct 9, 2023
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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
---

# A trio of high-impact papers

In May and August 2023 the following papers, which make extensive use of tskit projects, were published:

#### 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"}
{: style="clear:both"}

![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;"}

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.

#### 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"}
{: style="clear:both"}

![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;"}

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.


#### Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies – [<span class="link__text">Nature&nbsp;Genetics</span>](https://www.nature.com/articles/s41588-023-01487-8){:class="link--type-1--external"}
{: style="clear:both"}

![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;"}

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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