the bioinformatics chat

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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