Publications

The developing toolkit of continuous directed evolution.

Morrison MS, Podracky CJ, Liu DR. The developing toolkit of continuous directed evolution. Nat Chem Biol. 2020;16(6):610-619. doi:10.1038/s41589-020-0532-y.

Distinct mitochondrial defects trigger the integrated stress response depending on the metabolic state of the cell.

Mick E, Titov DV, Skinner OS, Sharma R, Jourdain AA, Mootha VK. Distinct mitochondrial defects trigger the integrated stress response depending on the metabolic state of the cell. Elife. 2020;9. doi:10.7554/eLife.49178.

The effect of LRRK2 loss-of-function variants in humans.

Whiffin N, Armean IM, Kleinman A, et al. The effect of LRRK2 loss-of-function variants in humans. Nat Med. 2020. doi:10.1038/s41591-020-0893-5.

Hepatic NADH reductive stress underlies common variation in metabolic traits.

Goodman RP, Markhard AL, Shah H, et al. Hepatic NADH reductive stress underlies common variation in metabolic traits. Nature. 2020. doi:10.1038/s41586-020-2337-2.

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

Whiffin N, Karczewski KJ, Zhang X, et al. Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2020;11(1):2523. doi:10.1038/s41467-019-10717-9.

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

Wang Q, Pierce-Hoffman E, Cummings BB, et al. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2020;11(1):2539. doi:10.1038/s41467-019-12438-5.

Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis.

Knevel R, le Cessie S, Terao CC, et al. Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis. Sci Transl Med. 2020;12(545). doi:10.1126/scitranslmed.aay1548.

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.

Marshall CR, Bick D, Belmont JW, et al. The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome Med. 2020;12(1):48. doi:10.1186/s13073-020-00748-z.

Mapping and characterization of structural variation in 17,795 human genomes.

Abel HJ, Larson DE, Regier AA, et al. Mapping and characterization of structural variation in 17,795 human genomes. Nature. 2020. doi:10.1038/s41586-020-2371-0.

A Jumbo Phage Forms a Nucleus-like Compartment to Evade Bacterial Defense Systems.

Modell AE, Siriwardena SU, Choudhary A. A Jumbo Phage Forms a Nucleus-like Compartment to Evade Bacterial Defense Systems. Biochemistry. 2020;59(20):1869-1870. doi:10.1021/acs.biochem.0c00273.