Results 121 to 130 of about 722,236 (315)

An integrated scheduling and control scheme with two economic layers for demand side management of chemical processes

AIChE Journal, EarlyView.
Abstract Integrated dynamic scheduling (IDS) and economic nonlinear model predictive control (eNMPC) enable economic operation of chemical plants subject to volatile energy prices. Herein, we combine the two concepts into an integrated two‐layer scheme. Therein, IDS performs “long‐horizon” scheduling on a day‐ahead (DA) market and eNMPC “short‐horizon”
Jan C. Schulze, Chrysanthi Papadimitriou, Paul Kolmer, Alexander Mitsos   +3 more
wiley   +1 more source

AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders

Human Mutation, Volume 43, Issue 12, Page 1795-1807, December 2022., 2022
Abstract Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs.
Johann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, Konrad Platzer, Bernt Popp, Rami Abou Jamra   +5 more
wiley   +1 more source

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

BMC Medical Genetics, 2017
Background Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign.
Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato   +5 more
doaj   +1 more source

Explainable Genetic Inheritance Pattern Prediction [PDF]

arXiv, 2018
Diagnosing an inherited disease often requires identifying the pattern of inheritance in a patient's family. We represent family trees with genetic patterns of inheritance using hypergraphs and latent state space models to provide explainable inheritance pattern predictions.
arxiv  

Sodium Oxybate‐Treated Familial Myoclonus‐Dystonia Syndrome Due to Novel SGCE Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Myoclonus‐dystonia syndrome (MDS, OMIM #159900) is an autosomal‐dominant movement disorder caused by heterozygous variants in the epsilon sarcoglycan gene (SGCE) and characterized by a combination of myoclonic jerks, dystonia, and psychiatric comorbidities.
Malak Ali Alghamdi, Muddathir H. Hamad, Isra Alghamdi, Ghiada Alghamdi, Muneera Al‐Jelaify, Sohaila Alshimemeri, Hebattalah Hamed, Nouran Adly, Mustafa A. Salih, Naif A. Almontashiri, Fahad A. Bashiri   +10 more
wiley   +1 more source

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database

Human Mutation, Volume 43, Issue 12, Page 1673-1705, December 2022., 2022
Abstract Loss‐of‐function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities
Stephanie A. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira   +8 more
wiley   +1 more source

Locations and patterns of meiotic recombination in two-generation pedigrees

BMC Medical Genetics, 2009
Background Meiotic crossovers are the major mechanism by which haplotypes are shuffled to generate genetic diversity. Previously available methods for the genome-wide, high-resolution identification of meiotic crossover sites are limited by the laborious
Roberson Elisha DO, Ting Jason C, Currier Duane G, Pevsner Jonathan   +3 more
doaj   +1 more source

Transfer learning approach for financial applications [PDF]

, 2015
Artificial neural networks learn how to solve new problems through a computationally intense and time consuming process. One way to reduce the amount of time required is to inject preexisting knowledge into the network.
Magoulas, George D., Stamate, Cosmin, Thomas, Michael S. C.   +2 more
core  

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

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

Human Mutation, Volume 43, Issue 12, Page 2170-2186, December 2022., 2022
Abstract The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 are widely used but are not gene specific.
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau   +14 more
wiley   +1 more source