Results 11 to 20 of about 1,222,922 (326)

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   +4 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.
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
openaire   +8 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

DisVar: an R library for identifying variants associated with diseases using large-scale personal genetic information [PDF]

PeerJ, 2023
Background Genetic variants may potentially play a contributing factor in the development of diseases. Several genetic disease databases are used in medical research and diagnosis but the web applications used to search these databases for disease ...
Khunanon Chanasongkhram, Kasikrit Damkliang, Unitsa Sangket   +2 more
doaj   +2 more sources

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population [PDF]

, 2020
Objectives: The cause of Meniere's disease (MD) is unclear but likely involves genetic and environmental factors. The aim of this study was to investigate the genetic basis underlying MD by screening putative candidate genes for MD.
Arweiler-Harbeck, Begovich, Brama, Cabrera, Campbell, de Lima, Doi, Dong, Eichler, Filipo, Flook, Foster, Frejo, Frejo, Frejo, Furuta, Gallego-Martinez, Gazquez, Gazquez, Girirajan, Greco, Hietikko, Huang, Kawaguchi, Khorsandi, Kim, Kimura, Klar, Koo, Lee, Lee, Lee, Lee, Lettre, Li, Li, Lien, Lien, Liew, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Marcus, Martín-Sierra, Martín-Sierra, Melchiorri, Meng, Morrison, Mustelin, Nair, Nair, Nair, Nishio, Oliveira-Paula, Qin, Rasheed, Rauch, Recupero, Reich, Rentzsch, Requena, Requena, Requena, Requena, Roman-Naranjo, Saint Pierre, Schwanitz, Shu, Sun, Takumida, Teggi, Teggi, Teggi, Teranishi, Tilburg, Tomoda, Uchida, Vrabec, Yang, Yazdani, Yazdani   +81 more
core   +1 more source

Genomic Diversity Evaluation of Populus trichocarpa Germplasm for Rare Variant Genetic Association Studies

Frontiers in Genetics, 2020
Genome-wide association studies are powerful tools to elucidate the genome-to-phenome relationship. In order to explain most of the observed heritability of a phenotypic trait, a sufficient number of individuals and a large set of genetic variants must ...
Anthony Piot, Anthony Piot, Anthony Piot, Julien Prunier, Julien Prunier, Julien Prunier, Nathalie Isabel, Jaroslav Klápště, Yousry A. El-Kassaby, Juan Carlos Villarreal Aguilar, Juan Carlos Villarreal Aguilar, Juan Carlos Villarreal Aguilar, Ilga Porth, Ilga Porth, Ilga Porth   +14 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

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   +14 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, Hyun Min Kang, Gonçalo R. Abecasis   +2 more
openaire   +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