Results 11 to 20 of about 4,753,986 (376)

Causal Genetic Variants in Stillbirth.

Obstetric Anesthesia Digest, 2020
BACKGROUND In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to chromosomal abnormalities.
Kate E Stanley, J. Giordano, V. Thorsten, Christie Buchovecky, Amanda L Thomas, M. Ganapathi, Jun Liao, Avinash V Dharmadhikari, Anya Revah-Politi, M. Ernst, N. Lippa, Halie Holmes, G. Povysil, Joseph Hostyk, C. Parker, R. Goldenberg, G. Saade, D. Dudley, H. Pinar, C. Hogue, U. Reddy, R. Silver, V. Aggarwal, A. Allen, R. Wapner, D. Goldstein   +25 more
semanticscholar   +5 more sources

Understanding genetic variants in context

eLife
Over the last three decades, human genetics has gone from dissecting high-penetrance Mendelian diseases to discovering the vast and complex genetic etiology of common human diseases.
Nasa Sinnott-Armstrong, Stanley Fields, Frederick Roth, Lea M Starita, Cole Trapnell, Judit Villen, Douglas M Fowler, Christine Queitsch   +7 more
doaj   +3 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
openaire   +3 more sources

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.
Patrick R, Sosnay, Garry R, Cutting
openaire   +2 more sources

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
openaire   +6 more sources

Role of Genetic Variants and Gene Expression in the Susceptibility and Severity of COVID-19

Annals of Laboratory Medicine, 2021
Since its first report in December 2019, coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has rapidly emerged as a pandemic affecting nearly all countries worldwide.
Sarita Choudhary, K. Sreenivasulu, Dr Prasenjit Mitra, S. Misra, Praveen Sharma   +4 more
semanticscholar   +1 more source

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
openaire   +2 more sources

In silico identification of variations in microRNAs with a potential impact on dairy traits using whole ruminant genome SNP datasets

Scientific Reports, 2021
MicroRNAs are small noncoding RNAs that have important roles in the lactation process and milk biosynthesis. Some polymorphisms have been studied in various livestock species from the perspective of pathology or production traits. To target variants that
Céline Bourdon, Mekki Boussaha, Philippe Bardou, Marie-Pierre Sanchez, Sandrine Le Guillou, Thierry Tribout, Hélène Larroque, Didier Boichard, Rachel Rupp, Fabienne Le Provost, Gwenola Tosser-Klopp   +10 more
doaj   +1 more source

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

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
openaire   +2 more sources