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Pedigree

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Discovering predisposing genes for hereditary breast cancer using deep learning.

Briefings in bioinformatics
Breast cancer (BC) is the most common malignancy affecting Western women today. It is estimated that as many as 10% of BC cases can be attributed to germline variants. However, the genetic basis of the majority of familial BC cases has yet to be iden...

Improving genomic prediction accuracy for meat tenderness in Nellore cattle using artificial neural networks.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie
The goal of this study was to compare the predictive performance of artificial neural networks (ANNs) with Bayesian ridge regression, Bayesian Lasso, Bayes A, Bayes B and Bayes Cπ in estimating genomic breeding values for meat tenderness in Nellore c...

Harnessing Population Pedigree Data and Machine Learning Methods to Identify Patterns of Familial Bladder Cancer Risk.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
BACKGROUND: Relatives of patients with bladder cancer have been shown to be at increased risk for kidney, lung, thyroid, and cervical cancer after correcting for smoking-related behaviors that may concentrate in some families. We demonstrate a novel ...

Artificially intelligent scoring and classification engine for forensic identification.

Forensic science international. Genetics
Despite advances in genotyping technologies, traditional kinship analysis tools utilized in forensic identification have seen limited evolution and lack measures of accuracy. Here, we leverage artificial intelligence (AI) and extend the Elston-Stewar...

Cross-Generation Kinship Verification with Sparse Discriminative Metric.

IEEE transactions on pattern analysis and machine intelligence
Kinship verification is a very important technique in many real-world applications, e.g., personal album organization, missing person investigation and forensic analysis. However, it is extremely difficult to verify a family pair with generation gap,...

genoDraw: A Web Tool for Developing Pedigree Diagrams Using the Standardized Human Pedigree Nomenclature Integrated with Biomedical Vocabularies.

AMIA ... Annual Symposium proceedings. AMIA Symposium
The integration of genetic information in current clinical routine has raised a need for tools to exploit family genetic knowledge. On the clinical side, an application for managing and visualizing pedigree diagrams could provide genetics specialists...

Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy.

American journal of human genetics
The potential for genetic discovery in human DNA sequencing studies is greatly diminished if DNA samples from a cohort are mislabeled, swapped, or contaminated or if they include unintended individuals. Unfortunately, the potential for such errors is...

Amelogenesis Imperfecta with Coronal Resorption: Report of Three Cases.

Dental update
Intracoronal resorption of the permanent dentition in cases of amelogenesis imperfecta (AI) is a rare finding which poses an added complication to the already complex management of this condition. This paper presents three cases of AI associated with...