the bioinformatics chat

#38 Issues in legacy genomes with Luke Anderson-Trocmé

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In this episode, Luke Anderson-Trocmé

talks about his findings from the 1000 Genomes Project. Namely, the early
sequenced genomes sometimes contain specific mutational signatures that
haven’t been replicated from other sources and can be found via their
association with lower base quality scores. Listen to Luke telling the story
of how he stumbled upon and investigated these fake variants and what their
impact is.

Links:

  • Legacy Data Confounds Genomics Studies (bioRxiv, Molecular Biology and Evolution (paywall)) (Luke Anderson-Trocmé, Rick Farouni, Mathieu Bourgey, Yoichiro Kamatani, Koichiro Higasa, Jeong-Sun Seo, Changhoon Kim, Fumihiko Matsuda and Simon Gravel)

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