Results 11 to 20 of about 1,253,541 (298)

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

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

Matching Variants for functional characterization of genetic variants

G3: Genes, Genomes, Genetics, 2023
Abstract Rapid 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 ...
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

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. The
Marcus, Joseph H., Novembre, John
openaire   +2 more sources

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, Gonçalo R. Abecasis, Hyun Min Kang   +2 more
openaire   +2 more sources

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.
Kate E, Stanley, Jessica, Giordano, Vanessa, Thorsten, Christie, Buchovecky, Amanda, Thomas, Mythily, Ganapathi, Jun, Liao, Avinash V, Dharmadhikari, Anya, Revah-Politi, Michelle, Ernst, Natalie, Lippa, Halie, Holmes, Gundula, Povysil, Joseph, Hostyk, Corette B, Parker, Robert, Goldenberg, George R, Saade, Donald J, Dudley, Halit, Pinar, Carol, Hogue, Uma M, Reddy, Robert M, Silver, Vimla, Aggarwal, Andrew S, Allen, Ronald J, Wapner, David B, Goldstein   +25 more
openaire   +4 more sources

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

Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation. [PDF]

, 2019
Accumulating evidence from genome wide association studies (GWAS) suggests an abundance of shared genetic influences among complex human traits and disorders, such as mental disorders.
Andreassen, Ole A, Dale, Anders M, Djurovic, Srdjan, Fan, Chun Chieh, Frei, Oleksandr, Holland, Dominic, Maeland, Steffen, O'Connell, Kevin S, Shadrin, Alexey A, Smeland, Olav B, Thompson, Wesley K, Wang, Yunpeng   +11 more
core   +3 more sources

Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis

Scientific Reports, 2021
In sudden unexpected death in infancy cases, postmortem genetic analysis with next-generation sequencing potentially can extract candidate genes associated with sudden death.
Keita Shingu, Takehiko Murase, Takuma Yamamoto, Yuki Abe, Yoriko Shinba, Masahide Mitsuma, Takahiro Umehara, Hiromi Yamashita, Kazuya Ikematsu   +8 more
doaj   +1 more source