Latest AI and machine learning research in genetics for healthcare professionals.
BACKGROUND: Mutations within the Von Hippel-Lindau (VHL) tumor suppressor gene are known to cause VHL disease, which is characterized by the formation of cysts and tumors in multiple organs of the body, particularly clear cell renal cell carcinoma (ccRCC). A major challenge in clinical practice is determining tumor risk from a given mutation in the VHL gene. Previous efforts have been hindered by ...
OBJECTIVE: Given the importance AI in genomics and its potential impact on human health, the American Medical Informatics Association-Genomics and Translational Biomedical Informatics (GenTBI) Workgroup developed this assessment of factors that can further enable the clinical application of AI in this space.
Advances in gene sequencing technology and decreasing costs have resulted in a proliferation of genomic data as an integral component of big data. The...
Compared with proteins, DNA and RNA are more difficult languages to interpret because four-letter coded DNA/RNA sequences have less information conten...
The detection of genetic aberrations is crucial for early therapy decisions in acute myeloid leukemia (AML) and recommended for all patients. Because ...
Biomarkers play an important role in various area such as personalized medicine, drug development, clinical care, and molecule breeding. However, exis...
Emerging CRISPR-Cas9 technology permits synthetic lethality (SL) screening of large number of gene pairs from gene combination double knockout (CDKO) ...
The Reactome Knowledgebase (https://reactome.org), an Elixir and GCBR core biological data resource, provides manually curated molecular details of a ...
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enab...
Plant Reactome (https://plantreactome.gramene.org) is a freely accessible, comprehensive plant pathway knowledgebase. It provides curated reference pa...
Machine Learning-based scoring and classification of genetic variants aids the assessment of clinical findings and is employed to prioritize variants ...
Low level of drip loss (DL) is an important quality characteristic of meat with high economic value. However, the key genes and regulatory networks co...
BACKGROUND: The virome obtained through virus-like particle enrichment contains a mixture of prokaryotic and eukaryotic virus-derived fragments. Accur...
BACKGROUND: RNA-RNA interactions are key to a wide range of cellular functions. The detection of potential interactions helps to understand the underl...
BACKGROUND: The high-throughput sequencing technologies have revolutionized the identification of novel RNA viruses. Given that viruses are infectious...
BACKGROUND: Due to a constant evolutionary arms race, archaea and bacteria have evolved an abundance and diversity of immune responses to protect them...
BACKGROUND: Predicting phenotypes from genetic variation is foundational for fields as diverse as bioengineering and global change biology, highlighti...
Chronic Myeloid Leukemia (CML) is a myeloproliferative stem cell malignancy. Chronic Phase CML (CP-CML) is treatable with overall survival equivalent ...
We introduce an innovative automated system for the search and assessment of genetic variant evidence, meticulously aligned with ACMG guidelines. Leve...
Gene expression profiles obtained through DNA microarray have proven successful in providing critical information for cancer detection classifiers. Ho...