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Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Habeb AM, Flanagan SE, Zulali MA, et al. Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia. 2018;61(5):1027-1036. doi:10.1007/s00125-018-4554-x

Allele-Specific Chromatin Recruitment and Therapeutic Vulnerabilities of ESR1 Activating Mutations.

Jeselsohn R, Bergholz JS, Pun M, et al. Allele-Specific Chromatin Recruitment and Therapeutic Vulnerabilities of ESR1 Activating Mutations. Cancer Cell. 2018;33(2):173-186.e5. doi:10.1016/j.ccell.2018.01.004

Analysis Identified a Genetically Unique Subset within Rheumatoid Arthritis and Distinct Genetic Background of Rheumatoid Factor Levels from Anticyclic Citrullinated Peptide Antibodies.

Hiwa R, Ikari K, Ohmura K, et al. Analysis Identified a Genetically Unique Subset within Rheumatoid Arthritis and Distinct Genetic Background of Rheumatoid Factor Levels from Anticyclic Citrullinated Peptide Antibodies. J Rheumatol. 2018;45(4):470-480. doi:10.3899/jrheum.170363

Identification of pathogenic variant enriched regions across genes and gene families.

Pérez-Palma E, May P, Iqbal S, et al. Identification of pathogenic variant enriched regions across genes and gene families. Genome Res. 2020;30(1):62-71. doi:10.1101/gr.252601.119

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

Bonàs-Guarch S, Guindo-Martínez M, Miguel-Escalada I, et al. Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. Nat Commun. 2018;9(1):321. doi:10.1038/s41467-017-02380-9

Spatiotemporal allele organization by allele-specific CRISPR live-cell imaging (SNP-CLING).

Maass PG, Barutcu R, Shechner DM, Weiner CL, Melé M, Rinn JL. Spatiotemporal allele organization by allele-specific CRISPR live-cell imaging (SNP-CLING). Nat Struct Mol Biol. 2018;25(2):176-184. doi:10.1038/s41594-017-0015-3

Host-mediated selection impacts the diversity of Plasmodium falciparum antigens within infections.

Early AM, Lievens M, MacInnis BL, et al. Host-mediated selection impacts the diversity of Plasmodium falciparum antigens within infections. Nat Commun. 2018;9(1):1381. doi:10.1038/s41467-018-03807-7

Using Droplet Digital PCR to Analyze Allele-Specific RNA Expression.

Kamitaki N, Usher CL, McCarroll SA. Using Droplet Digital PCR to Analyze Allele-Specific RNA Expression. Methods Mol Biol. 2018;1768:401-422. doi:10.1007/978-1-4939-7778-9_23

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Zhang S, Samocha KE, Rivas MA, et al. Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. Genome Res. 2018;28(7):968-974. doi:10.1101/gr.231902.117

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.

Gazal S, Loh PR, Finucane HK, et al. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. Nat Genet. 2018;50(11):1600-1607. doi:10.1038/s41588-018-0231-8