Results 131 to 140 of about 733,000 (317)

Efficient path-based computations on pedigree graphs with compact encodings

BMC Bioinformatics, 2012
A pedigree is a diagram of family relationships, and it is often used to determine the mode of inheritance (dominant, recessive, etc.) of genetic diseases.
Yang Lei, Cheng En, Özsoyoğlu Z Meral
doaj   +1 more source

O-42 COSTA RICA NATIONAL NEWBORN SCREENING LABORATORY´S EXPERIENCE IN DIAGNOSING ALPHA-1 ANTITRYPSIN DEFICIENCY

Annals of Hepatology, 2023
Introduction and Objectives: Alpha-1 antitrypsin (AAT) is an acute-phase glycoprotein encoded by the SERPINA1 gene. This allele has a codominant expression and Alpha-1 antitrypsin deficiency (AATD) is caused by the inheritance of two affected alleles ...
Mariela Solano-Vargas, Juan Diego Gutiérrez-Ávila, Jessica Arroyo-Hernández, Danny Alvarado-Romero, Natassia Camacho-Matamoros, Mildred Jiménez-Hernández   +5 more
doaj  

The new classes of the genetic algorithms are defined by nonassociative groupoids [PDF]

arXiv, 2012
The genetic product of the groupoids, originating in the theory of DNA recombination, is introduced. It permits a natural generalization of the classical genetic algorithm. The full characterization of all three-element genetic groupoids gives an approach to construct the new classes of genetic algorithms.
arxiv  

Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young, Deborah W. Neklason, Kathleen Clark, Bing‐Jian Feng, Megan B. Keener, Thérèse M. Tuohy, Austin Wood, Wendy C. McKinnon, Marc S. Greenblatt, Sean V. Tavtigian   +9 more
wiley   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Discovering Evolutionary Stepping Stones through Behavior Domination [PDF]

arXiv, 2017
Behavior domination is proposed as a tool for understanding and harnessing the power of evolutionary systems to discover and exploit useful stepping stones. Novelty search has shown promise in overcoming deception by collecting diverse stepping stones, and several algorithms have been proposed that combine novelty with a more traditional fitness ...
arxiv  

Yunweiling alleviates functional constipation: integrating network pharmacology and experimental study

Animal Models and Experimental Medicine, EarlyView.
In a study combining network pharmacological analysis and experimental verification, yunweiling has been shown improve functional constipation by inhibiting the PI3K‐Akt‐p53 signaling pathway and reducing the expression of TP53. Abstract Background This study investigated the impacts and mechanisms of yunweiling in the management of Functional ...
Peng Zhang, Wei Li, Weiwen Zheng, Jinwen Liu, Nuonan She, Xia Chen, Weibo Wen   +6 more
wiley   +1 more source

MeGA: Merging Multiple Independently Trained Neural Networks Based on Genetic Algorithm [PDF]

arXiv
In this paper, we introduce a novel method for merging the weights of multiple pre-trained neural networks using a genetic algorithm called MeGA. Traditional techniques, such as weight averaging and ensemble methods, often fail to fully harness the capabilities of pre-trained networks.
arxiv  

Implications of the Reduction Principle for Cosmological Natural Selection [PDF]

arXiv, 2013
Smolin (1992) proposed that the fine-tuning problem for parameters of the Standard Model might be accounted for by a Darwinian process of universe reproduction - Cosmological Natural Selection (CNS) - in which black holes give rise to offspring universes with slightly altered parameters. The laws for variation and inheritance of the parameters are also
arxiv  

Dosage‐dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses

The Anatomical Record, EarlyView.
Abstract Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 syndromic associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains a challenge.
Heather A. Richbourg, Marta Vidal‐García, Katherine A. Brakora, Jay Devine, Risa Takenaka, Nathan M. Young, Siew‐Ging Gong, Amanda Neves, Benedikt Hallgrímsson, Ralph S. Marcucio   +9 more
wiley   +1 more source