Annual Review of Genomics and Human Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Integrating Large-Scale Protein Structure Prediction into Human Genetics Research
Annu Rev Genomics Hum Genet. 2024 Apr 15. doi: 10.1146/annurev-genom-120622-020615. Online ahead of print.ABSTRACTThe last five years have seen impressive progress in deep learning models applied to protein research. Most notably, sequence-based structure predictions have seen transformative gains in the form of AlphaFold2 and related approaches. Millions of missense protein variants in the human population lack annotations, and these computational methods are a valuable means to prioritize variants for further analysis. Here, we review the recent progress in deep learning models applied to the prediction of protein struct...
Source: Annual Review of Genomics and Human Genetics - April 15, 2024 Category: Genetics & Stem Cells Authors: Miguel Correa Marrero J ürgen Jänes Delora Baptista Pedro Beltrao Source Type: research

Benefit-Sharing by Design: A Call to Action for Human Genomics Research
Annu Rev Genomics Hum Genet. 2024 Apr 12. doi: 10.1146/annurev-genom-021623-104241. Online ahead of print.ABSTRACTThe ethical standards for the responsible conduct of human research have come a long way; however, concerns surrounding equity remain in human genetics and genomics research. Addressing these concerns will help society realize the full potential of human genomics research. One outstanding concern is the fair and equitable sharing of benefits from research on human participants. Several international bodies have recognized that benefit-sharing can be an effective tool for ethical research conduct, but internatio...
Source: Annual Review of Genomics and Human Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Ann M Mc Cartney Amber Hartman Scholz Mathieu Groussin Ciara Staunton Source Type: research

Causes and Consequences of Varying Transposable Element Activity: An Evolutionary Perspective
Annu Rev Genomics Hum Genet. 2024 Apr 11. doi: 10.1146/annurev-genom-120822-105708. Online ahead of print.ABSTRACTTransposable elements (TEs) are genomic parasites found in nearly all eukaryotes, including humans. This evolutionary success of TEs is due to their replicative activity, involving insertion into new genomic locations. TE activity varies at multiple levels, from between taxa to within individuals. The rapidly accumulating evidence of the influence of TE activity on human health, as well as the rapid growth of new tools to study it, motivated an evaluation of what we know about TE activity thus far. Here, we dis...
Source: Annual Review of Genomics and Human Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Andrea J Betancourt Kevin H-C Wei Yuheng Huang Yuh Chwen G Lee Source Type: research

Mapping Human Immunity and the Education of Waldeyer's Ring
Annu Rev Genomics Hum Genet. 2024 Apr 9. doi: 10.1146/annurev-genom-120522-012938. Online ahead of print.ABSTRACTThe development and deployment of single-cell genomic technologies have driven a resolution revolution in our understanding of the immune system, providing unprecedented insight into the diversity of immune cells present throughout the body and their function in health and disease. Waldeyer's ring is the collective name for the lymphoid tissue aggregations of the upper aerodigestive tract, comprising the palatine, pharyngeal (adenoids), lingual, and tubal tonsils. These tonsils are the first immune sentinels enc...
Source: Annual Review of Genomics and Human Genetics - April 10, 2024 Category: Genetics & Stem Cells Authors: Benjamin J Talks Michael W Mather Manisha Chahal Matthew Coates Menna R Clatworthy Muzlifah Haniffa Source Type: research

Deep Learning Sequence Models for Transcriptional Regulation
Annu Rev Genomics Hum Genet. 2024 Apr 9. doi: 10.1146/annurev-genom-021623-024727. Online ahead of print.ABSTRACTDeciphering the regulatory code of gene expression and interpreting the transcriptional effects of genome variation are critical challenges in human genetics. Modern experimental technologies have resulted in an abundance of data, enabling the development of sequence-based deep learning models that link patterns embedded in DNA to the biochemical and regulatory properties contributing to transcriptional regulation, including modeling epigenetic marks, 3D genome organization, and gene expression, with tissue and ...
Source: Annual Review of Genomics and Human Genetics - April 10, 2024 Category: Genetics & Stem Cells Authors: Ksenia Sokolova Kathleen M Chen Yun Hao Jian Zhou Olga G Troyanskaya Source Type: research

Polygenic Risk Scores Driving Clinical Change in Glaucoma
Annu Rev Genomics Hum Genet. 2024 Apr 10. doi: 10.1146/annurev-genom-121222-105817. Online ahead of print.ABSTRACTGlaucoma is a clinically heterogeneous disease and the world's leading cause of irreversible blindness. Therapeutic intervention can prevent blindness but relies on early diagnosis, and current clinical risk factors are limited in their ability to predict who will develop sight-threatening glaucoma. The high heritability of glaucoma makes it an ideal substrate for genetic risk prediction, with the bulk of risk being polygenic in nature. Here, we summarize the foundations of glaucoma genetic risk, the developmen...
Source: Annual Review of Genomics and Human Genetics - April 10, 2024 Category: Genetics & Stem Cells Authors: Antonia Kolovos Mark M Hassall Owen M Siggs Emmanuelle Souzeau Jamie E Craig Source Type: research

The < em > Myriad < /em > Decision at 10
Annu Rev Genomics Hum Genet. 2024 Feb 29. doi: 10.1146/annurev-genom-010323-011239. Online ahead of print.ABSTRACTA decade ago, the US Supreme Court decided Association for Molecular Pathology v. Myriad Genetics, Inc., concluding that isolated genes were not patentable subject matter. Beyond being a mere patent dispute, the case was a political and cultural phenomenon, viewed as a harbinger for the health of the biotechnology industry. With a decade of perspective, though, Myriad's impact seems much narrower. The law surrounding patentable subject matter-while greatly transformed-only centered on Myriad in small part. The ...
Source: Annual Review of Genomics and Human Genetics - February 29, 2024 Category: Genetics & Stem Cells Authors: Jacob S Sherkow Robert Cook-Deegan Henry T Greely Source Type: research