We have used Google NotebookLM as a way of making our research more accessible. NotebookLM is a cool tool which can convert documents into a Podcast style conversation so a new way of communicating that’s fun and you can listen to our research being explained.

Lake NJ, Ma K, Liu W, Battle SL, Laricchia KM, Tiao G, Puiu D, Ng KK, Cohen J, Compton AG, Cowie S, Christodoulou J, Thorburn DR, Zhao H, Arking DE, Sunyaev SR, Lek M. Quantifying constraint in the human mitochondrial genome. Nature. 2024 Nov;635(8038):390-397. Podcast link

Ma K, Huang S*, Ng KK*, Lake NJ, Joseph S, Xu J, Lek A, Ge L, Woodman KG, Koczwara KE, Cohen J, Ho V, O’Connor CL, Brindley MA, Campbell KP, Lek M. Saturation mutagenesis-reinforced functional assays for disease-related genes. Cell. 2024 Sep 19:S0092-8674(24)00976-0. Podcast link

Ma K, Gauthier LO, Cheung F, Huang S, Lek M. High-throughput assays to assess variant effects on disease. Dis Model Mech. 2024 Jun 1;17(6) Podcast link

Laricchia KM*, Lake NJ*, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J; Genome Aggregation Database Consortium, Rehm HL, MacArthur DG, Tiao G, Lek M*, Mootha VK*, Calvo SE*. Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Res. 2022 Mar;32(3):569-582. Podcast Link

Koczwara KE*, Lake NJ*, DeSimone AM, Lek M. Neuromuscular disorders: finding the missing genetic diagnoses. Trends Genet. 2022 Sep;38(9):956-971. Podcast Link

Lek A, Ma K, Woodman KG, Lek M. Nuclease-Deficient Clustered Regularly Interspaced Short Palindromic Repeat-Based Approaches for In Vitro and In Vivo Gene Activation. Hum Gene Ther. 2021 Mar;32(5-6):260-274. Podcast Link

Lek M, et. al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 Aug 18;536(7616):285-91. Podcast Link