Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

FM De La Vega, S Chowdhury, B Moore, E Frise… - Genome Medicine, 2021 - Springer
Background Clinical interpretation of genetic variants in the context of the patient's
phenotype is becoming the largest component of cost and time expenditure for genome …

Dysgu: efficient structural variant calling using short or long reads

K Cleal, DM Baird - Nucleic acids research, 2022 - academic.oup.com
Structural variation (SV) plays a fundamental role in genome evolution and can underlie
inherited or acquired diseases such as cancer. Long-read sequencing technologies have …

A multi-platform reference for somatic structural variation detection

JE Valle-Inclan, NJM Besselink, E de Bruijn… - Cell Genomics, 2022 - cell.com
Accurate detection of somatic structural variation (SV) in cancer genomes remains a
challenging problem. This is in part due to the lack of high-quality, gold-standard datasets …

Regulatory Mechanisms of Pollen Development: Transcriptomic and Bioinformatic Insights into the Role of β-1,3 Glucanase Gene (LbGlu1) in Lycium barbarum

X Zhang, Z Bei, J Li, H Ma, C Wang, W Xu, Y Ren… - Horticulturae, 2024 - mdpi.com
Pollen fertility is a critical factor in seed development and crop breeding. Extensive studies
have explored the mechanisms of pollen fertility in model plants and economic crops …

[หนังสือ][B] Multi-Sample Approaches and Applications for Structural Variant Detection

S Niehus - 2022 - search.proquest.com
In recent years, advances in the field of sequencing technologies have enabled the field of
population-scale sequencing studies. These studies aim to sequence and analyze a large …