Phenotype accurately
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Identifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively employing systemic treatment strategies and risk-reducing interventions.
15p viellison 28-03-2024 4 2 Download
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Genetic penetrance is the probability of a phenotype when harbouring a particular pathogenic variant. Accurate penetrance estimates are important across biomedical fields including genetic counselling, disease research, and gene therapy. However, existing approaches for penetrance estimation require, for instance, large family pedigrees or availability of large databases of people affected and not affected by a disease.
13p vicwell 29-02-2024 3 1 Download
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Accurate and efficient identification of complex chronic conditions in the electronic health record (EHR) is an important but challenging task that has historically relied on tedious clinician review and oversimplification of the disease.
5p visteverogers 24-06-2023 3 2 Download
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Accurate electronic phenotyping is essential to support collaborative observational research. Supervised machine learning methods can be used to train phenotype classifiers in a high-throughput manner using imperfectly labeled data.
7p vighostrider 25-05-2023 4 2 Download
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Accurate extraction of breast cancer patients’ phenotypes is important for clinical decision support and clinical research. This study developed and evaluated cancer domain pretrained CancerBERT models for extracting breast cancer phenotypes from clinical texts.
9p vighostrider 25-05-2023 2 2 Download
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Accurate and rapid phenotyping is a prerequisite to leveraging electronic health records for biomedical research. While early phenotyping relied on rule-based algorithms curated by experts, machine learning (ML) approaches have emerged as an alternative to improve scalability across phenotypes and healthcare settings.
15p vighostrider 25-05-2023 5 2 Download
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Diversity in crops is fundamental for plant breeding efforts. An accurate assessment of genetic diversity, using molecular markers, such as single nucleotide polymorphism (SNP), must be able to reveal the structure of the population under study
12p vinarcissa 21-03-2023 8 1 Download
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Growth and carcass traits are very important traits for broiler chickens. However, carcass traits can only be measured postmortem. Genomic selection may be a powerful tool for such traits because of its accurate prediction of breeding values of animals without own phenotypic information.
8p vinarcissa 21-03-2023 3 1 Download
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Accurate classification of patients with a complex disease into subtypes has important implications for medicine and healthcare. Using more homogeneous disease subtypes in genetic association analysis will facilitate the detection of new genetic variants that are not detectible using the non-differentiated disease phenotype.
12p vinarcissa 21-03-2023 4 1 Download
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Tunisia is considered a secondary center of diversification of durum wheat and has a large number of abandoned old local landraces. An accurate investigation and characterization of the morphological and genetic features of these landraces would allow their rehabilitation and utilization in wheat breeding programs.
17p vihagrid 30-01-2023 11 3 Download
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The phenotypes of cancer cells are driven in part by somatic structural variants. Structural variants can initiate tumors, enhance their aggressiveness, and provide unique therapeutic opportunities. Whole-genome sequencing of tumors can allow exhaustive identification of the specific structural variants present in an individual cancer, facilitating both clinical diagnostics and the discovery of novel mutagenic mechanisms.
15p vigalileogalilei 27-02-2022 10 1 Download
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Genome-wide DNA methylation (DNAm) profiling has allowed for the development of molecular predictors for a multitude of traits and diseases. Such predictors may be more accurate than the self-reported phenotypes and could have clinical applications.
11p vigalileogalilei 27-02-2022 10 1 Download
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The explosive growth of genomic data provides an opportunity to make increased use of sequence variations for phenotype prediction. We have developed a prediction machine for quantitative phenotypes (WhoGEM) that overcomes some of the bottlenecks limiting the current methods.
20p vigalileogalilei 27-02-2022 8 1 Download
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Structural variations (SVs) account for about 1% of the differences among human genomes and play a significant role in phenotypic variation and disease susceptibility. The emerging nanopore sequencing technology can generate long sequence reads and can potentially provide accurate SV identification.
13p vielonmusk 30-01-2022 10 0 Download
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Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis.
21p vialfrednobel 29-01-2022 13 0 Download
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Multiple hypothesis testing is a major issue in genome-wide association studies (GWAS), which often analyze millions of markers. The permutation test is considered to be the gold standard in multiple testing correction as it accurately takes into account the correlation structure of the genome.
18p viaristotle 29-01-2022 11 1 Download
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Epigenetic clocks use DNA methylation (DNAm) levels of specific sets of CpG dinucleotides to accurately predict individual chronological age. A popular application of these clocks is to explore whether the deviation of predicted age from chronological age is associated with disease phenotypes, where this deviation is interpreted as a potential biomarker of biological age.
21p viarchimedes 26-01-2022 18 0 Download
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Identification of mutations from next-generation sequencing data typically requires a balance between sensitivity and accuracy. This is particularly true of DNA insertions and deletions (indels), that can impart significant phenotypic consequences on cells but are harder to call than substitution mutations from whole genome mutation accumulation experiments.
19p vibeauty 23-10-2021 11 1 Download
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Severe asthma and chronic obstructive pulmonary disease (COPD) can be challenging to manage, particularly when the clinical features may be similar. With the increased availability of advanced therapies for both entities, it is more important than ever to diagnose and phenotype accurately to inform appropriate treatment decisions.
4p vimontana2711 05-04-2021 19 2 Download
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The success of a dairy industry in India is much dependent on buffaloes and the level of production and reproduction traits. These performance traits depend on several genetic and non-genetic factors which introduce biasness in the estimation of genetic value of performance traits. In the absence of accurate phenotypic value of milk production traits, it becomes difficult to estimate genetic parameters of the traits which determine the optimum selection criterion for planned improvement programme of the animals.
8p trinhthamhodang1218 26-02-2021 15 2 Download