Results 101 to 110 of about 319,715 (326)

Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance

Frontiers in Genetics, 2020
Mendelian and complex genetic trait diseases continue to burden and affect society both socially and economically. The lack of effective tests has hampered diagnosis thus, the affected lack proper prognosis.
Aquillah M. Kanzi, James Emmanuel San, Benjamin Chimukangara, Eduan Wilkinson, Maryam Fish, Veron Ramsuran, Tulio de Oliveira   +6 more
doaj   +1 more source

Using GWAS Data to Identify Copy Number Variants Contributing to Common Complex Diseases

, 2010
Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional variation ...
Teslovich, Tanya M., Zöllner, Sebastian
core   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

The Role of Heredity and the Prevalence of Strabismus in Families with Accommodative, Partial Accommodative, and Infantile Esotropia

Türk Oftalmoloji Dergisi, 2020
Objectives:To investigate the prevalence of strabismus in families of a proband with accommodative, partial accommodative, or infantile esotropia (IET), and to evaluate the mode of inheritance and the role of consanguineous marriages in this prevalence ...
Fatma Çorak Eroğlu, Sibel Oto, Feride İffet Şahin, Yunus Terzi, Özge Özer Kaya, Mustafa Agah Tekindal   +5 more
doaj   +1 more source

Deep structured learning for variant prioritization in Mendelian diseases

Nature Communications, 2023
Effective computer-aided or automated variant evaluations for monogenic diseases will expedite clinical diagnostic and research efforts of known and novel disease-causing genes.
Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vivian Cintra, Stephan Züchner   +6 more
doaj   +1 more source

Lean ZSF1 rats in basic research on heart failure with preserved ejection fraction

ESC Heart Failure, Volume 12, Issue 2, Page 1474-1478, April 2025.
Abstract Aims ZSF1 obese rats harbouring two mutant leptin receptor alleles (Leprcp and Leprfa) develop metabolic syndrome and heart failure with preserved ejection fraction (HFpEF), making them a widely used animal model in cardiometabolic research.
Petra Büttner, Antje Augstein, Mahmoud Abdellatif, André Lourenço, Adelino Leite‐Moreira, Inês Falcão‐Pires, Sarah Werner, Holger Thiele, Simon Sedej, Antje Schauer, Volker Adams   +10 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Using Mendelian inheritance errors as quality control criteria in whole genome sequencing data set

BMC Proceedings, 2014
Although the technical and analytic complexity of whole genome sequencing is generally appreciated, best practices for data cleaning and quality control have not been defined. Family based data can be used to guide the standardization of specific quality
Valentina Pilipenko, Hua He, B. Kurowski, Eileen S. Alexander, Xue Zhang, L. Ding, T. Mersha, Leah Kottyan, D. Fardo, Lisa J. Martin   +9 more
semanticscholar   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

A Method for Calculating Whole-Genome Sequencing Outcomes from Trio Data

Algorithms
Background. Whole-genome sequencing (WGS) enables comprehensive detection of genetic variants but faces limitations in benchmarking due to incomplete reference datasets.
Nikita Koltunov, Egor Guguchkin, Oleg Samovarov, Liudmila Mikhailova, Evgeny Karpulevich   +4 more
doaj   +1 more source