
Iain Mathieson
@mathiesoniain
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Population genetics, ancient DNA, statistics.
Philadelphia, PA
Joined April 2012
RT @ShaiCarmi: The Silicon Valley people interviewed seem almost apathetic to the realities of life of anyone outside their bubble. Their….
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RT @sarakmathieson: Our paper "Interpreting GANs to infer natural selection from genetic data" is out in Genetics! Thank you @petrelharp as….
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Completely agree - I always find claims in papers about the number of "novel" variants to be silly. Every position in the genome is variable somewhere. Patterns of LD *are* population specific but of more limited interest.
The use of the phrase “ancestry-specific variant” is increasing, particularly to describe rare Single-nucleotide variants (SNVs). But these alleles are not ancestry-specific. They have not yet been found elsewhere, but they will be. 1/n.
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Couldn't agree more! Nothing wrong with PCA.
It's a pity that All of Us used UMAP to visualize ancestry variation in their new marker paper, out today in Nature. The UMAP algorithm, by design, exaggerates the distinctiveness of the most frequent ancestries, a message that can be misinterpreted by the public.
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Uh. missing genotypes "might appear" as 0 instead of .
PSA, since I've now seen problems arising from this: As of Sept 2023, GATK no longer makes missing genotypes explicit in VCFs (i.e. "./." as in the VCF spec). Missing genotypes are instead coded as "0/0" with a DP=0 format field. See attached for examples.
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RT @pontus_skoglund: "Disease Evolution in the Human Past" - Join us March 21st 2024 @TheCrick for a half-day symposium in the Medicine at….
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RT @yun_s_song: After lengthy anticipation, we finally got to compare PrimateAI-3D with our Cross-Protein Transfer (CPT) model https://t.co….
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This is a good explanation. In my opinion this is the major limitation of the paper.
On the Clark paper: correlation functions often decay over various distances (genetic, environmental, spatial, etc). Observing a correlation that varies over genetic relatedness is not evidence that the cause is genetic, since many other processes create correlations that decay.
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