Results 11 to 20 of about 1,262,664 (328)

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

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

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

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

Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations [PDF]

, 2009
Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic consequences.
A Caspi, A Schulz, A. CecileJ.W. Janssens, Aaron Isaacs, AE Bielawska, Alan Wright, Anatoly V. Kirichenko, Andrew A. Hicks, Annette Peters, AR Morgan, Ayse Demirkan, B Devlin, Ben A. Oostra, C Gieger, C Pattaro, Caroline Hayward, Carsten Gnewuch, Christian Hengstenberg, Christine Schwienbacher, Christopher S. Franklin, Cornelia M. van Duijn, Cristian Pattaro, E Wang, F Dudbridge, Fabio Marroni, G Liebisch, G Liebisch, Gerd Schmitz, Gerhard Liebisch, Ghazal Zaboli, Greg Gibson, H.-Erich Wichmann, Harry Campbell, Heribert Schunkert, I Rudan, Igor Rudan, Inger Jonasson, Inke R. König, Irene Pichler, Irina V. Zorkoltseva, Ivana Kolcic, J Bras, J Erdmann, Jacqueline C. M. Witteman, James F. Wilson, Jeanette Erdmann, JL Dawkins, KJ Brookes, L Schaeffer, LN Clark, M Mehrabian, MA Simpson, N Amin, N Martinelli, Nick Hastie, NJ Samani, Ozren Polasek, P Wiesner, Peter P. Pramstaller, Peter Ugocsai, S Flamant, S Kathiresan, S Narayan, Sarah H. Wild, SL Schissel, ST Pruett, Stefan Schreiber, Susan Campbell, T Kolter, T Tanaka, Tatiana I. Axenovich, Thomas Meitinger, Ulf Gyllensten, V Vitart, Veronique Vitart, W Zheng, WC Nichols, Wilmar Igl, WL Holland, WM Chen, YS Aulchenko, YS Aulchenko, Yurii Aulchenko, Zrinka Biloglav, Åsa Johansson   +84 more
core   +15 more sources

Modeling and Testing for Joint Association Using a Genetic Random Field Model [PDF]

, 2014
Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown.
Adler, Ballard, Besag, Besag, Browning, Burridge, Chatterjee, Cliff, Cressie, Davies, De Iorio, Gauderman, Gotze, Laird, Manolio, Molitor, Molitor, Price, Ritchie, Romeo, Rotar, Thomas, Tzeng, Wu, Wu   +24 more
core   +2 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

Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]

, 2011
Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
core   +1 more source