AIMC Topic: Genotyping Techniques

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Machine learning to optimize automated RH genotyping using whole-exome sequencing data.

Blood advances Jun 11, 2024
Rh phenotype matching reduces but does not eliminate alloimmunization in patients with sickle cell disease (SCD) due to RH genetic diversity that is not distinguishable by serological typing. RH genotype matching can potentially mitigate Rh alloimmun...
Humans Machine Learning Genotype Alleles Anemia, Sickle Cell Genotyping Techniques Exome Sequencing Rh-Hr Blood-Group System
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MAMnet: detecting and genotyping deletions and insertions based on long reads and a deep learning approach.

Briefings in bioinformatics Sep 20, 2022
Structural variations (SVs) play important roles in human genetic diversity; deletions and insertions are two common types of SVs that have been proven to be associated with genetic diseases. Hence, accurately detecting and genotyping SVs is signific...
Humans Software Deep Learning Genotype Sequence Analysis, DNA High-Throughput Nucleotide Sequencing Genome, Human Genotyping Techniques
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RefRGim: an intelligent reference panel reconstruction method for genotype imputation with convolutional neural networks.

Briefings in bioinformatics Nov 5, 2021
Genotype imputation is a statistical method for estimating missing genotypes from a denser haplotype reference panel. Existing methods usually performed well on common variants, but they may not be ideal for low-frequency and rare variants. Previous ...
Humans Neural Networks, Computer Software Algorithms Reproducibility of Results Deep Learning Genome-Wide Association Study Genotype Computational Biology Databases, Genetic Genotyping Techniques Web Browser Genetics, Population
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EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data.

Nucleic acids research Apr 23, 2019
The associations between diseases/traits and copy number variants (CNVs) have not been systematically investigated in genome-wide association studies (GWASs), primarily due to a lack of robust and accurate tools for CNV genotyping. Herein, we propose...
Humans Machine Learning Polymorphism, Single Nucleotide DNA Copy Number Variations Quality Control Datasets as Topic Genome, Human Genotyping Techniques
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High throughput preparation of fly genomic DNA in 96-well format using a paint-shaker.

Fly Jan 1, 2015
Sample homogenization is an essential step for genomic DNA extraction, with multiple downstream applications in Molecular Biology. Genotyping hundreds or thousands of samples requires an automation of this homogenization step, and high throughput hom...
Animals DNA Genotyping Techniques Drosophila Genetic Techniques
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