Results 11 to 20 of about 245,577 (122)

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

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

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

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

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. [PDF]

, 2018
Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X and analyze genotypes with four quantitative ...
Abecasis, Goncalo, Alver, Maris, Bloom, Jonathan M, Chaffin, Mark, Correa, Adolfo, Cupples, L Adrienne, Engreitz, Jesse M, Ernst, Jason, Esko, Tonu, Ganna, Andrea, Johnson, W Craig, Kathiresan, Sekar, Kellis, Manolis, Khera, Amit V, Lander, Eric S, Manichaikul, Ani, Mitchell, Braxton, Montasser, May, Natarajan, Pradeep, Neale, Benjamin M, NHLBI TOPMed Lipids Working Group, O'Connell, Jeffrey R, Peloso, Gina M, Perry, James A, Poterba, Timothy, Rich, Stephen S, Ripatti, Samuli, Rotter, Jerome I, Ruotsalainen, Sanni E, Salomaa, Veikko, Seed, Cotton, Surakka, Ida L, Vasan, Ramachandran S, Willer, Cristen J, Wilson, James G, Zekavat, Seyedeh Maryam, Zhou, Wei   +36 more
core   +2 more sources

Indels, structural variation, and recombination drive genomic diversity inPlasmodium falciparum [PDF]

, 2016
The malaria parasite Plasmodium falciparum has a great capacity for evolutionary adaptation to evade host immunity and develop drug resistance. Current understanding of parasite evolution is impeded by the fact that a large fraction of the genome is ...
Campino, Susana, Drury, Eleanor, Ferdig, Michael, Gould, Kelda, Hayton, Karen, Iqbal, Zamin, Kwiatkowski, Dominic, MacInnis, Bronwyn, McVean, Gil, Mead, Daniel, Miles, Alistair, Mwangi, Jonathan, O'Brien, John, Pearson, Richard, Ranford-Cartwright, Lisa, Rayner, Julian, Ruano Rubio, Valentin, Samarakoon, Upeka, Su, Xin-zhuan, Theron, Michel, Vauterin, Paul, Wellems, Thomas   +21 more
core   +3 more sources

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer disease [PDF]

, 2017
Alzheimer disease (AD), Frontotemporal lobar degeneration (FTD), Amyotrophic lateral sclerosis (ALS) and Parkinson disease (PD) have a certain degree of clinical, pathological and molecular overlap.
Alexandra Medvedeva, Alison Goate, Ben Saef, Carlos Cruchaga, Joanne Norton, John C. Morris, John P. Budde, Jong Hun Kim, Jorge Del-Aguila, Kathleen Black, Laura Ibañez, Maria Victoria Fernández, null null, null null, Oscar Harari, Rachel Chasse, Umber Dube, Yuetiva Deming   +17 more
core   +4 more sources

Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]

, 2012
The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous ...
Lange, Kenneth, Sabatti, Chiara, Zhang, Zhongyang   +2 more
core   +4 more sources

MendelianRandomization v0.5.0: updates to an R package for performing Mendelian randomization analyses using summarized data [version 2; peer review: 1 approved, 2 approved with reservations]

Wellcome Open Research, 2020
The MendelianRandomization package is a software package written for the R software environment that implements methods for Mendelian randomization based on summarized data. In this manuscript, we describe functions that have been added to the package or
Jim R. Broadbent, Christopher N. Foley, Andrew J. Grant, Amy M. Mason, James R. Staley, Stephen Burgess   +5 more
doaj   +1 more source

On the origins of Mendelian disease genes in man: the impact of gene duplication [PDF]

, 2011
Over 3,000 human diseases are known to be linked to heritable genetic variation, mapping to over 1,700 unique genes. Dating of the evolutionary age of these disease-associated genes has suggested that they have a tendency to be ancient, specifically ...
Dickerson, Jonathan E., Robertson, David L.   +1 more
core   +1 more source