Our method, Relate, estimates genealogical trees genome-wide for thousands of samples, many more than previously possible. It jointly infers branch lengths & historical effective population sizes, which we show is useful for a broad range of applications. 2/7
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Application to 1K Genomes Project haplotypes shows signals of Neanderthal and Denisovan introgression into non-African lineages and many highly diverged lineages in African genealogies suggestive of unexplained ancient structure. 3/7
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We observe a strong elevation in the TCC to TTC mutation rate, strongest in Europeans, around 5,000 - 30,000 years ago, as previously shown by
@Kelley__Harris (https://www.ncbi.nlm.nih.gov/pubmed/25733855 ) 4/7Prikaži ovu nit -
We then use a simple but powerful tree-based approach for detecting selection acting on mutations. We find strong enrichment for GWAS hits among targets of natural selection and test for selection acting on polygenic traits. 5/7
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We see, e.g., selection for less black/more brown hair colour in EUR and directional selection for BMI, blood pressure, and white and red blood cell counts, but more work is needed to disentangle different modes of selection, pleiotropy. 6/7
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Lots of possible extensions - any comments are greatly appreciated! Thanks to everyone who gave comments and ideas and of course
@simon_r_myers for the opportunity to work with him on this project! Software: https://myersgroup.github.io/relate/ 7/7Prikaži ovu nit
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