| 1. |
- Magoulopoulou, Anastasia, 1986-, et al.
(författare)
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Padlock Probe-Based Targeted In Situ Sequencing : Overview of Methods and Applications
- 2023
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Ingår i: Annual review of genomics and human genetics (Print). - 1527-8204 .- 1545-293X. ; 24, s. 133-150
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Forskningsöversikt (refereegranskat)abstract
- Elucidating spatiotemporal changes in gene expression has been an essential goal in studies of health, development, and disease. In the emerging field of spatially resolved transcriptomics, gene expression profiles are acquired with the tissue architecture maintained, sometimes at cellular resolution. This has allowed for the development of spatial cell atlases, studies of cell-cell interactions, and in situ cell typing. In this review, we focus on padlock probe-based in situ sequencing, which is a targeted spatially resolved transcriptomic method. We summarize recent methodological and computational tool developments and discuss key applications. We also discuss compatibility with other methods and integration with multiomic platforms for future applications.
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| 2. |
- Schlebusch, Carina, 1977-, et al.
(författare)
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Tales of Human Migration, Admixture, and Selection in Africa
- 2018
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Ingår i: Annual review of genomics and human genetics (Print). - : ANNUAL REVIEWS. - 1527-8204 .- 1545-293X. ; 19, s. 405-428
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Tidskriftsartikel (refereegranskat)abstract
- In the last three decades, genetic studies have played an increasingly important role in exploring human history. They have helped to conclusively establish that anatomically modern humans first appeared in Africa roughly 250,000-350,000 years before present and subsequently migrated to other parts of the world. The history of humans in Africa is complex and includes demographic events that influenced patterns of genetic variation across the continent. Through genetic studies, it has become evident that deep African population history is captured by relationships among African hunter-gatherers, as the world's deepest population divergences occur among these groups, and that the deepest population divergence dates to 300,000 years before present. However, the spread of pastoralism and agriculture in the last few thousand years has shaped the geographic distribution of present-day Africans and their genetic diversity. With today's sequencing technologies, we can obtain full genome sequences from diverse sets of extant and prehistoric Africans. The coming years will contribute exciting new insights toward deciphering human evolutionary history in Africa.
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| 3. |
- Terao, C, et al.
(författare)
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Recent Advances in Defining the Genetic Basis of Rheumatoid Arthritis
- 2016
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Ingår i: Annual review of genomics and human genetics. - : Annual Reviews. - 1545-293X .- 1527-8204. ; 17, s. 273-301
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Tidskriftsartikel (refereegranskat)abstract
- Rheumatoid arthritis (RA) is the most common inflammatory arthritis and exhibits genetic overlap with other autoimmune and inflammatory disorders. Although predominant associations with the HLA-DRB1 locus have been known for decades, recent data have revealed additional insight into the likely causative variants within HLA-DRB1 as well as within other HLA loci that contribute to disease risk. In addition, more than 100 common variants in non-HLA loci have been implicated in disease susceptibility. Genetic factors are involved not only in the development of RA, but also with various disease subphenotypes, including production and circulating levels of autoantibodies and joint destruction. The major current challenge is to integrate these new data into a precise understanding of disease pathogenesis, including the critical cell types and molecular networks involved as well as interactions with environmental factors. We predict that delineating the functional effects of genetic variants is likely to drive new diagnostic and therapeutic approaches to the disease.
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