Identifying sequence variants that play a mechanistic role in human disease and other phenotypes is a fundamental goal in human genetics and will be important in translating the results of variation studies. Experimental validation to confirm that a variant causes the biochemical changes responsible for a given disease or phenotype is considered the gold standard, but this cannot currently be applied to the 3 million or so variants expected in an individual genome. This has prompted the development of a wide variety of computational approaches that use several different sources of information to identify functional variation. Here, we review and assess the limitations of computational techniques for categorizing variants according to functional classes, prioritizing variants for experimental follow-up and generating hypotheses about the possible molecular mechanisms to inform downstream experiments. We discuss the main current bioinformatics approaches to identifying functional variation, including widely used algorithms for coding variation such as SIFT and PolyPhen and also novel techniques for interpreting variation across the genome.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254438 | PMC |
http://dx.doi.org/10.1186/s13073-014-0087-1 | DOI Listing |
iScience
January 2025
School of Physics and Electronic Engineering, Jiangsu University, Zhenjiang, Jiangsu 212013, P.R. China.
Efficiently generating energetically stable crystal structures has long been a challenge in material design, primarily due to the immense arrangement of atoms in a crystal lattice. To facilitate the discovery of stable materials, we present a framework for the generation of synthesizable materials leveraging a point cloud representation to encode intricate structural information. At the heart of this framework lies the introduction of a diffusion model as its foundational pillar.
View Article and Find Full Text PDFFront Psychol
January 2025
Department of Psychosomatic Medicine and Psychotherapy, LWL-University Hospital, Ruhr-Universität Bochum, Bochum, Germany.
Introduction: Intrusive memories occur frequently after potentially traumatic events and form a core symptom of posttraumatic stress disorder (PTSD) if they persist. The translational approach of visuospatial interventions tries to target those intrusive memories in order to reduce their frequency predominantly using an intervention including as one component the computer game Despite promising results, the application of has critical drawbacks, e.g.
View Article and Find Full Text PDFComput Struct Biotechnol J
November 2024
Intellicode Cooperation, Republic of Korea.
Conventional personal health record (PHR) management systems are centralized, making them vulnerable to privacy breaches and single points of failure. Despite progress in standardizing healthcare data with the FHIR format, hospitals often lack efficient platforms for transferring PHRs, leading to redundant tests and delayed treatments. To address these challenges, we propose a decentralized PHR management system leveraging Personal Data Stores (PDS) and Decentralized Identifiers (DIDs) in line with the Web 3.
View Article and Find Full Text PDFFront Immunol
January 2025
Department of Hepatobiliary Surgery, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Introduction: Locally advanced pancreatic cancer (LAPC) is a borderline unresectable malignancy that presents significant treatment challenges. The management of LAPC remains a complex issue, particularly in patients who are not eligible for surgical resection.
Case: Here, we report the case of a 60-year-old woman diagnosed with LAPC through pathological biopsy who subsequently underwent targeted immunotherapy following the failure of a gemcitabine, oxaliplatin, and S-1 (G&S) chemotherapy regimen.
Front Immunol
January 2025
Jiangsu Engineering Research Center of Biological Data Mining and Healthcare Transformation, Xuzhou Medical University, Xuzhou, China.
Introduction: Brucellosis is a widespread zoonotic disease that poses a considerable challenge to global public health. Existing diagnostic methods for this condition, such as serological assays and bacterial culture, encounter difficulties due to their limited specificity and high operational complexity. Therefore, there is an urgent need for the development of enhanced diagnostic approaches for brucellosis.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!