Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
Artificial intelligence and machine learning in precision and genomic medicine
S Quazi - Medical Oncology, 2022 - Springer
The advancement of precision medicine in medical care has led behind the conventional
symptom-driven treatment process by allowing early risk prediction of disease through …
symptom-driven treatment process by allowing early risk prediction of disease through …
Technological advances in cancer immunity: from immunogenomics to single-cell analysis and artificial intelligence
Y Xu, GH Su, D Ma, Y **ao, ZM Shao… - Signal Transduction and …, 2021 - nature.com
Immunotherapies play critical roles in cancer treatment. However, given that only a few
patients respond to immune checkpoint blockades and other immunotherapeutic strategies …
patients respond to immune checkpoint blockades and other immunotherapeutic strategies …
Towards accurate and reliable resolution of structural variants for clinical diagnosis
Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
Long-read sequencing for rare human genetic diseases
During the past decade, the search for pathogenic mutations in rare human genetic
diseases has involved huge efforts to sequence coding regions, or the entire genome, using …
diseases has involved huge efforts to sequence coding regions, or the entire genome, using …
Tracking pre-mRNA maturation across subcellular compartments identifies developmental gene regulation through intron retention and nuclear anchoring
Steps of mRNA maturation are important gene regulatory events that occur in distinct cellular
locations. However, transcriptomic analyses often lose information on the subcellular …
locations. However, transcriptomic analyses often lose information on the subcellular …
Artificial intelligence and cardiovascular genetics
Polygenic diseases, which are genetic disorders caused by the combined action of multiple
genes, pose unique and significant challenges for the diagnosis and management of …
genes, pose unique and significant challenges for the diagnosis and management of …
[HTML][HTML] Exome sequencing in genetic disease: recent advances and considerations
Over the past decade, exome sequencing (ES) has allowed significant advancements to the
field of disease research. By targeting the protein-coding regions of the genome, ES …
field of disease research. By targeting the protein-coding regions of the genome, ES …
Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …
Progress in methods for copy number variation profiling
Copy number variations (CNVs) are the predominant class of structural genomic variations
involved in the processes of evolutionary adaptation, genomic disorders, and disease …
involved in the processes of evolutionary adaptation, genomic disorders, and disease …