Results 61 to 70 of about 640,355 (344)

Biodigital publics: personal genomes as digital media artifacts [PDF]

, 2013
The recent proliferation of personal genomics and direct-to-consumer (DTC) genomics has attracted much attention and publicity. Concern around these developments has mainly focused on issues of biomedical regulation and hinged on questions of how people ...
Barry A., Baym N. K., Castells M., Epstein S., Gibbon S., Gregg M., Harris A., Jones S., Kate O'Riordan, Levina M., O'Riordan K., Rabinow P., Roof J., Sack W., Thacker E.   +14 more
core   +1 more source

Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era. [PDF]

, 2019
The horse reference genome from the Thoroughbred mare Twilight has been available for a decade and, together with advances in genomics technologies, has led to unparalleled developments in equine genomics.
Bellone, R, Finno, Carrie, Petersen, J, Raudsepp, T   +3 more
core   +2 more sources

Neurospora from natural populations: Population genomics insights into the Life history of a model microbial Eukaryote [PDF]

, 2020
The ascomycete filamentous fungus Neurospora crassa played a historic role in experimental biology and became a model system for genetic research. Stimulated by a systematic effort to collect wild strains initiated by Stanford geneticist David Perkins ...
A Menkis, A Pandit, A Pandit, A Pringle, A Stamatakis, AJ Powell, BC Turner, BO Dodge, BO Dodge, BO Dodge, C Roux, CA Muirhead, CE Ellison, CF Villalta, CL Shear, D Bryant, D Charlesworth, D Falush, DD Perkins, DD Perkins, DD Perkins, DD Perkins, DD Perkins, DD Perkins, DJ Jacobson, DJ Jacobson, DJ Jacobson, DK Aanen, E Frichot, E Turner, E Turner, EM Luque, GS Saenz, GW Beadle, H Akashi, H-C Kuo, HV Colot, J Dettman, J Heller, J Heller, J Palma-Guerrero, J Svedberg, J Zhao, JB Leducq, JE Galagan, JE Stajich, JF Wilson, JK Pritchard, JR Dettman, JR Dettman, JW Taylor, JW Taylor, JW Taylor, K Kitazima, K Nygren, KR Pomraning, MJ Hubisz, MP Skupski, NB Raju, NG Swenson, NH Horowitz, NL Glass, NL Glass, P Ad, P Corcoran, P Corcoran, P Corcoran, P Corcoran, P Gladieux, P Gladieux, P Gladieux, PR Neal, RH Davis, RH Davis, RN Gutenkunst, S Billiard, S Mita De, S Poggeler, T Giraud, TE Cruickshank, YF Li   +80 more
core   +2 more sources

The Genetics and Functional Genomics of Osteoarthritis.

Annual review of genomics and human genetics (Print)
Osteoarthritis is the most prevalent whole-joint degenerative disorder, and is characterized by the degradation of articular cartilage and the underlying bone structures. Almost 600 million people are affected by osteoarthritis worldwide.
A. Arruda, G. Katsoula, Shibo Chen, Ene Reimann, P. Kreitmaier, E. Zeggini   +5 more
semanticscholar   +1 more source

MaizeGDB 2018: the maize multi-genome genetics and genomics database

Nucleic Acids Res., 2018
Since its 2015 update, MaizeGDB, the Maize Genetics and Genomics database, has expanded to support the sequenced genomes of many maize inbred lines in addition to the B73 reference genome assembly.
J. Portwood, M. Woodhouse, Ethalinda K. S. Cannon, J. Gardiner, L. Harper, M. Schaeffer, Jesse R. Walsh, T. Sen, Kyoung Tak Cho, David A. Schott, Bremen L. Braun, Miranda Dietze, B. Dunfee, C. Elsik, Nancy Manchanda, E. Coe, M. Sachs, P. Stinard, J. Tolbert, S. Zimmerman, Carson M. Andorf   +20 more
semanticscholar   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

The genetics and genomics of Trypanosoma cruzi [PDF]

, 2007
Trypanosoma cruzi is a kinetoplastid parasite that causes Chagas disease. Trypanosomes are unusual organisms in many aspects of its genetics and molecular and cellular biology and considered a paradigm of the exception of the rule in the eukaryotic ...
Vazquez, Martin Pablo
core  

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Genetics and Genomics for Clinicians [PDF]

JAMA, 2008
ADVANCES IN GENETICS AND GENOMICS ARE REVOLUtionizing biomedical science and providing great promise for the future of clinical practice. The magnitude, scope, and pace of discovery in genetics and genomics research are at unprecedented levels and continue to increase exponentially.
Phil B, Fontanarosa, Boris, Pasche, Catherine D, DeAngelis   +2 more
openaire   +2 more sources

Ten years of genetics and genomics: what have we achieved and where are we heading? [PDF]

, 2018
To celebrate the first 10 years of Nature Reviews Genetics, we asked eight leading researchers for their views on the key developments in genetics and genomics in the past decade and the prospects for the future.
Heard, Edith, Tishkoff, Sarah, Todd, John A., Vidal, Marc, Wagner, Günter P., Wang, Jun, Weigel, Detlef, Young, Richard A   +7 more
core   +1 more source