Results 11 to 20 of about 248,446 (274)

The role of mutation rate variation and genetic diversity in the architecture of human disease [PDF]

, 2013
Background We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease.
A Hodgkinson, A Hodgkinson, A Kong, Adam Eyre-Walker, B Charlesworth, B Charlesworth, C Park, CJ Pink, CL Chen, FA Kondrashov, G McVicker, H Ellegren, H Huang, I Hellmann, I Hellmann, I. King Jordan, J Maynard Smith, JA Stamatoyannopoulos, JJ Michaelson, KH Wolfe, L Duret, MJ Lercher, MT Maurano, MW Nachman, NG Smith, R Blekhman, RS Hansen, S Tyekucheva, TI Gossmann, Ying Chen Eyre-Walker   +29 more
core   +4 more sources

Allelic segregation and independent assortment in T. brucei crosses: proof that the genetic system is Mendelian and involves meiosis [PDF]

, 2005
The genetic system on Trypanosoma brucei has been analysed by generating large numbers of independent progeny clones from two crosses, one between two cloned isolates of Trypanosoma brucei brucei and one between cloned isolates of T. b.
Annette MacLeod, Alison Tweedie, Sarah McLellan, Sonya Taylor, Anneli Cooper, Lindsay Sweeney, C. Michael R. Turner, Andy Tait, Hoare, Gibson, Tibayrenc, MacLeod, MacLeod, MacLeod, Gibson, Turner, Jenni, Sternberg, Gibson, Tait, Gibson, Le Page, Paindovoine, Hope, Su, Su, Martinelli, Culleton, Martinelli, Su, Shirley, Tait, MacLeod, El-Sayed, Hall, Benson, Gaunt, Tait, Gibson, Schweizer, Gibson, Gibson, Hassold, Hide, Van Den Abbeele   +44 more
core   +1 more source

Survey of variation in human transcription factors reveals prevalent DNA binding changes [PDF]

, 2016
Published in final edited form as: Science. 2016 Mar 25; 351(6280): 1450–1454. Published online 2016 Mar 24. doi: 10.1126/science.aad2257Sequencing of exomes and genomes has revealed abundant genetic variation affecting the coding sequences of human ...
Barrera, Luis A., Bulyk, Martha L., Cotsapas, Chris, Daly, Mark J., Gisselbrecht, Stephen S., Gordan, Raluxa, Hao, Tong, Hill, David E., Inukai, Sachi, Kellis, Manolis, Kock, Kian Hong, Kurland, Jesse V., Mariani, Luca, Rogers, Julia M., Rossin, Elizabeth J., Sahni, Nidhi, Shokri, Leila, Siggers, Trevor, Vedenko, Anastasia, Vidal, Marc, Woodard, Jaie, Yi, Song   +21 more
core   +1 more source

Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis [PDF]

, 2020
Background A non-invasive method to grade the severity of steatohepatitis and liver fibrosis is magnetic resonance imaging (MRI) based corrected T1 (cT1).
Banerjee, R, Banerjee, R, Bell, J.D., Bell, J.D., Hemingway, H., Hemingway, H., Hingorani, A.D., Hingorani, A.D., Kelly, M., Kelly, M., McGonigle, J., McGonigle, J., Neubauer, S., Neubauer, S., Nicholls, R.C., Nicholls, R.C., Parisinos, C.A., Parisinos, C.A., Patel, R.S., Patel, R.S., Thomas, E.L., Thomas, E.L., Wilman, H., Wilman, H., Yaghootkar, H., Yaghootkar, H.   +25 more
core   +3 more sources

Monogenic Lupus: A Developing Paradigm of Disease

Frontiers in Immunology, 2018
Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system.
Jessie M. Alperin, Lourdes Ortiz-Fernández, Amr H. Sawalha, Amr H. Sawalha   +3 more
doaj   +1 more source

An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]

, 2015
Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim, Broeckx, Bart, Coopman, Frank, Deforce, Dieter, Dingemanse, Walter, Gielen, Ingrid, Saunders, Jimmy, Van Nieuwerburgh, Filip, Verhoeven, Geert   +8 more
core   +5 more sources

Mendelian Inheritance Pattern and High Mutation Rates of Microsatellite Alleles in the Diatom Pseudo-nitzchia multistriata [PDF]

, 2012
The diatom Pseudo-nitzschia multistriata exhibits a diplontic life cycle composed of an extensive phase of vegetative cell division and a brief phase of sexual reproduction.
Amos, Bengtsson, Brinkmann, Callen, Casteleyn, Chepurnov, Chepurnov, Christophe Legrand, Cloutier, Cock van Oosterhout, De Meester, Dobrowolski, Douhovnikoff, Duret, D’Alelio, D’Alelio, D’Alelio, Ellegren, Ellegren, Ellegren, Evans, Gabriele Procaccini, Guillard, Halkett, Hohoff, Härnström, Kruglyak, Lakeman, Li, Marina Montresor, Ouborg, O’Connell, Reece, Reusch, Round, Rynearson, Rynearson, Rynearson, Schurko, Selkoe, Seyfert, Spurgin, Sylvie V.M. Tesson, Tesson, Valière, van Oosterhout, van Oosterhout, Vanoverbeke, White, Wiebe H.C.F. Kooistra, Zar   +50 more
core   +1 more source

Pleiotropy-robust Mendelian randomization [PDF]

International Journal of Epidemiology, 2016
AbstractBackgroundThe potential of Mendelian Randomization studies is rapidly expanding due to (i) the growing power of GWAS meta-analyses to detect genetic variants associated with several exposures, and (ii) the increasing availability of these genetic variants in large-scale surveys.
van Kippersluis, Hans, Rietveld, Cornelius A   +1 more
openaire   +3 more sources

Celer: an Efficient Program for Genotype Elimination [PDF]

Electronic Proceedings in Theoretical Computer Science, 2010
This paper presents an efficient program for checking Mendelian consistency in a pedigree. Since pedigrees may contain incomplete and/or erroneous information, geneticists need to pre-process them before performing linkage analysis.
Nicoletta De Francesco, Giuseppe Lettieri, Luca Martini   +2 more
doaj   +1 more source

Causal analysis between gastro-oesophageal reflux disease and obstructive sleep apnoea

ERJ Open Research, 2023
Background Based on evidence from existing observational research, clarifying the causal relationship between gastro-oesophageal reflux disease (GORD) and obstructive sleep apnoea (OSA) is challenging.
Gui Chen, Xin Gong, Shenrong Liu, Junyang Xie, Yingqi Wang, Wucheng Guo, Wenjing Liao, Lijuan Song, Xiaowen Zhang   +8 more
doaj   +1 more source