Results 201 to 210 of about 1,791,159 (252)

Genetic alterations in poor-quality individually selected sperm highlight candidate biomarkers for male subfertility. [PDF]

Sci Rep
Al Smadi MA, Shah AA, Khan MR, Alshdaifat E, Fischer U, Abdul-Khaliq H, Meese E, Abu-Halima M.   +7 more
europepmc   +1 more source

Novel Alzheimer's disease-associated variants and genetic interactions identified from UK biobank whole-exome sequencing data using IBI-DT. [PDF]

Sci Rep
Ren J, Yin R, Zhao J, Liu J.
europepmc   +1 more source

A Newly Identified Flower-Specific Splice Variant of AUXIN RESPONSE FACTOR8 Regulates Stamen Elongation and Endothecium Lignification in Arabidopsis

The Plant Cell, 2018
R. Ghelli, P. Brunetti, Nadia Napoli, A. De Paolis, V. Cecchetti, T. Tsuge, G. Serino, M. Matsui, Giovanni Mele, Gianmarco Rinaldi, G. A. Palumbo, F. Barozzi, P. Costantino, M. Cardarelli   +13 more
semanticscholar   +1 more source

UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability. [PDF]

Genome Biol
Jung H, Jung HU, Kang JO, Lim JE, Oh B.
europepmc   +1 more source

Functional Annotation of GWAS Loci Using Public Transcriptome and Epigenome Datasets Reveals Non-Coding Genes and Regulatory Elements Which May Contribute to BMI. [PDF]

Int J Mol Sci
Yang C, Yu X, Kleinbrink EL, King D, Chen L, Lipovich L.   +5 more
europepmc   +1 more source

Promoter identity shapes splicing outcomes and fidelity. [PDF]

Nat Commun
Shanas S, Schwartz AM, Nesher N, Melnik A, Mikl M.   +4 more
europepmc   +1 more source

needLR: long-read structural variant annotation with population-scale frequency estimation. [PDF]

Bioinformatics
Gustafson JA, Lin J, Zalusky MPG, Eichler EE, Miller DE.   +4 more
europepmc   +1 more source

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

European Journal of Human Genetics, 2018
S. Baert-Desurmont, S. Coutant, F. Charbonnier, P. Macquère, F. Lecoquierre, M. Schwartz, Maud Blanluet, M. Vezain, R. Lanos, O. Quenez, Jacqueline Bou, Emilie Bouvignies, Steeve Fourneaux, Sandrine Manase, S. Vasseur, J. Mauillon, M. Gérard, Régine Marlin, G. Bougeard, J. Tinat, T. Frebourg, I. Tournier   +21 more
semanticscholar   +1 more source

DPYD genotyping in patients receiving capecitabine: an exploratory analysis from the D-TORCH study. [PDF]

Front Pharmacol
Baskarane H, Divakar MK, Santhosh AP, Pallavi K, Hooda V, Yenamandra VK, Kumar S, Shetty V, Banotra J, Gupta I, Minocha S, Tanwar P, Sharma A, Vasudeva P, Kumar A, Chethan R, Bakhshi S, Batra A.   +17 more
europepmc   +1 more source

Decoding MAPT Exon 10 Mis-Splicing in FTDP-17: From Pathogenic Mechanisms and Experimental Models to Molecular Therapies. [PDF]

Genes (Basel)
Covello G.
europepmc   +1 more source