Results 11 to 20 of about 649,887 (338)

A Boolean algebra for genetic variants

Bioinformatics, 2023
AbstractMotivationBeyond identifying genetic variants, we introduce a set of Boolean relations, which allows for a comprehensive classification of the relations of every pair of variants by taking all minimal alignments into account. We present an efficient algorithm to compute these relations, including a novel way of efficiently computing all minimal
Jonathan K Vis, Mark A Santcroos, Walter A Kosters, Jeroen F J Laros   +3 more
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Interpretation of genetic variants [PDF]

Thorax, 2013
Sequencing of the human genome and introduction of clinical next-generation sequencing enable discovery of all DNA variants carried by an individual. Variants may be solely responsible for disease, may contribute to disease, or may have no influence on the development of disease.
Garry R. Cutting, Patrick R. Sosnay
openaire   +2 more sources

Matching Variants for functional characterization of genetic variants

G3: Genes, Genomes, Genetics, 2023
AbstractRapid and low-cost sequencing, as well as computer analysis, have facilitated the diagnosis of many genetic diseases, resulting in a substantial rise in the number of disease-associated genes. However, genetic diagnosis of many disorders remains problematic due to the lack of interpretation for many genetic variants, especially missenses, the ...
Sebiha Cevik, Pei Zhao, Atiyye Zorluer, Mustafa S Pir, Wenyin Bian, Oktay I Kaplan   +5 more
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Visualizing the geography of genetic variants [PDF]

Bioinformatics, 2016
Abstract Summary One of the key characteristics of any genetic variant is its geographic distribution. The geographic distribution can shed light on where an allele first arose, what populations it has spread to, and in turn on how migration, genetic drift, and natural selection have acted.
Marcus, Joseph H., Novembre, John
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Causal Genetic Variants in Stillbirth

Obstetric Anesthesia Digest, 2020
(N Engl J Med. 2020;383:1107–1116) Between 25% and 60% of stillbirth cases are unexplained. Exome sequencing has been used to determine the cause of disease, especially in childhood disorders and fetal structural anomalies. There is an opportunity to further apply clinical exome sequencing to investigating the cause of stillbirth.
Donald J. Dudley, David Goldstein, George R. Saade, Mythily Ganapathi, Uma M. Reddy, Amanda Thomas, Kate E. Stanley, Anya Revah-Politi, Andrew S. Allen, Joseph Hostyk, Halit Pinar, Jun Liao, Robert L. Goldenberg, Robert M. Silver, Michelle E. Ernst, Jessica L. Giordano, Gundula Povysil, Christie M. Buchovecky, Halie Holmes, Vanessa Thorsten, Vimla Aggarwal, Carol J. R. Hogue, Natalie Lippa, Avinash V. Dharmadhikari, Ronald J. Wapner, Corette B. Parker   +25 more
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Dystrophin genetic variants and autism

Discover Mental Health, 2022
AbstractLoss-of-function variants in the dystrophin gene, a well-known cause of muscular dystrophies, have emerged as a mutational risk mechanism for autism spectrum disorder (ASD), which in turn is a highly prevalent (~ 1%) genetically heterogeneous neurodevelopmental disorder.
Maria Rita Passos-Bueno, Claudia Ismania Samogy Costa, Mayana Zatz   +2 more
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Unified representation of genetic variants [PDF]

Bioinformatics, 2015
Abstract Summary: A genetic variant can be represented in the Variant Call Format (VCF) in multiple different ways. Inconsistent representation of variants between variant callers and analyses will magnify discrepancies between them and complicate variant filtering and duplicate removal.
Adrian Tan, Hyun Min Kang, Gonçalo R. Abecasis   +2 more
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Genetic susceptibility variants in parkinsonism [PDF]

Parkinsonism & Related Disorders, 2016
Parkinsonism is an umbrella term for a group of disorders characterized by the clinical signs of tremor, bradykinesia, rigidity, and postural instability. On neuropathologic examination parkinsonism can display alternate protein pathologies (e.g. α-synucleinopathy or tauopathy) but the degeneration of nigral neurons is consistent.
Owen A. Ross, Alexandra I. Soto-Ortolaza
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On the origins of genetic variants [PDF]

FEBS Letters, 1991
Two contrasting mechanisms responsible for the creation of genetic variants are described: one is the manifestation of the limited accuracy of the cellular machinery for DNA replication, the other results from the ability of cells to repair damaged DNA.
openaire   +3 more sources

Liquid State Genetic Programming [PDF]

In: Beliczynski, B., Dzielinski, A., Iwanowski, M., Ribeiro, B. (eds) Adaptive and Natural Computing Algorithms. ICANNGA 2007. Lecture Notes in Computer Science, vol 4431. Springer, 2023
A new Genetic Programming variant called Liquid State Genetic Programming (LSGP) is proposed in this paper. LSGP is a hybrid method combining a dynamic memory for storing the inputs (the liquid) and a Genetic Programming technique used for the problem solving part.
arxiv   +1 more source