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Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 22 likely causal SNPs for BD. We mapped these SNPs to genes, and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci, and results from rare variant exome sequencing in BD. Convergent lines of evidence supported the roles of SCN2A, TRANK1, DCLK3, INSYN2B, SYNE1, THSD7A, CACNA1B, TUBBP5, PLCB3, PRDX5, KCNK4, AP001453.3, TRPT1, FKBP2, DNAJC4, RASGRP1, FURIN, FES, YWHAE, DPH1, GSDMB, MED24, THRA, EEF1A2, and KCNQ2 in BD. These represent promising candidates for functional experiments to understand biological mechanisms and therapeutic potential. Additionally, we demonstrated that fine-mapping effect sizes can improve performance and transferability of BD polygenic risk scores across ancestrally diverse populations, and present a high-throughput fine-mapping pipeline (https://github.com/mkoromina/SAFFARI).
F.T. Kützing introduced Cocconeis molesta with only an uninformative description and a poor illustration: C. molesta has small, oblong valves and is an epiphyte. Another species, Cocconeis diaphana, described by William Smith, is said to have larger valves than C. molesta, with frustules that are relatively oblong. Smith described two forms: one with a distinct fascia on its raphe valve (var. β), the other without this feature. A third species, Cocconeis dirupta was described by Gregory, who expressed doubts that it differed from C. diaphana. Finally, Cocconeis molesta var. crucifera Grunow was first introduced in Van Heurck’s Atlas but was subsequently treated by Van Heurck as a synonym of C. molesta. No previous account has examined the type material of these species. In this paper, we undertake that task and examine type slides and raw material in order to discriminate these different taxa. We conclude by recognizing three species: Cocconeis molesta Kütz., C. diaphana W.Sm. and C. dirupta W.Greg. Cocconeis diaphana var. β is considered to be a synonym of C. dirupta and C. molesta var. crucifera is considered to be a synonym of C. molesta. Lectotypes are designated for C. diaphana and C. dirupta.