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Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.

Gazal S, Finucane HK, Furlotte NA, et al. Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat Genet. 2017;49(10):1421-1427. doi:10.1038/ng.3954

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.

Nguyen HT, Bryois J, Kim A, et al. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders. Genome Med. 2017;9(1):114. doi:10.1186/s13073-017-0497-y

Adaptive combination of Bayes factors as a powerful method for the joint analysis of rare and common variants.

Lin WY, Chen WJ, Liu CM, et al. Adaptive combination of Bayes factors as a powerful method for the joint analysis of rare and common variants. Sci Rep. 2017;7(1):13858. doi:10.1038/s41598-017-13177-7

Modeling the genetic relatedness of Plasmodium falciparum parasites following meiotic recombination and cotransmission.

Wong W, Wenger EA, Hartl DL, Wirth DF. Modeling the genetic relatedness of Plasmodium falciparum parasites following meiotic recombination and cotransmission. PLoS Comput Biol. 2018;14(1):e1005923. doi:10.1371/journal.pcbi.1005923

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

Finucane HK, Reshef YA, Anttila V, et al. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat Genet. 2018;50(4):621-629. doi:10.1038/s41588-018-0081-4

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

Intron retention is a source of neoepitopes in cancer.

Smart AC, Margolis CA, Pimentel H, et al. Intron retention is a source of neoepitopes in cancer. Nat Biotechnol. 2018;36(11):1056-1058. doi:10.1038/nbt.4239

Deciphering eukaryotic gene-regulatory logic with 100 million random promoters.

de Boer CG, Vaishnav ED, Sadeh R, Abeyta EL, Friedman N, Regev A. Deciphering eukaryotic gene-regulatory logic with 100 million random promoters. Nat Biotechnol. 2020;38(1):56-65. doi:10.1038/s41587-019-0315-8

High-throughput inference of pairwise coalescence times identifies signals of selection and enriched disease heritability.

Palamara PF, Terhorst J, Song YS, Price AL. High-throughput inference of pairwise coalescence times identifies signals of selection and enriched disease heritability. Nat Genet. 2018;50(9):1311-1317. doi:10.1038/s41588-018-0177-x

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

Aneichyk T, Hendriks WT, Yadav R, et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018;172(5):897-909.e21. doi:10.1016/j.cell.2018.02.011