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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
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 …
phenotype is becoming the largest component of cost and time expenditure for genome …
Dysgu: efficient structural variant calling using short or long reads
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 …
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 …
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 …
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 …
population-scale sequencing studies. These studies aim to sequence and analyze a large …