Results 1 to 10 of about 11,509,666 (312)

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Proceedings of the National Academy of Sciences of the United States of America, 2009
L. Hindorff, P. Sethupathy, Heather Junkins, E. Ramos, Jayashri P. Mehta, F. Collins, T. Manolio   +6 more
semanticscholar   +1 more source

O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency

Genetics in Medicine Open
Charles Venditti, Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli   +11 more
doaj   +1 more source

Advancing global genomic equity: making a case for national genome projects in Africa. [PDF]

Nat Commun
Alimohamed MZ, El-Kamah G, Hamdi Y, Vicente-Crespo M, Ndiaye R, Ramsay M.   +5 more
europepmc   +1 more source

P023: Using genomic databases to estimate rare disease prevalence: Application to disorders of propionyl-CoA oxidation

Genetics in Medicine Open
Jennifer Sloan, Camryn Hall, Irini Manoli, Charles Venditti   +3 more
doaj   +1 more source

Transposable Element Activation: A Hallmark of Cancer. [PDF]

Cancer Discov
Chiappinelli KB, Burns KH.
europepmc   +1 more source

Genome-wide pervasiveness and localized variation of [Formula: see text]-mer-based genomic signatures in eukaryotes. [PDF]

Sci Rep
Sadjadi N, de Souza CPE, Randhawa GS, Hill KA, Kari L.   +4 more
europepmc   +1 more source

P516: Comparison of electronic health record condition codes and personal health history survey data in the All of Us research program*

Genetics in Medicine Open
Margaret Rencher, Slavina Goleva, Bennett Waxse, Huan Mo, Tam Tran, Tracey Ferrera, Joshua Denny   +6 more
doaj   +1 more source

MGA: a tool for haplotype-mixed assembly of long and accurate reads. [PDF]

Genome Biol
Zhang Z, Fedarko MW, Bankevich A, Pevzner PA.   +3 more
europepmc   +1 more source

Draft Genome and Comparative Analysis of a <i>Cutaneotrichosporon jirovecii</i>-Related Yeast Recovered from a Human Fecal Sample. [PDF]

J Fungi (Basel)
Huang Y, Dai R, Liu F, Gou X, Zhu R, Yu S, Luo Z, Guo D, Sun T, Xiao M, Xu Y, Guo L.   +11 more
europepmc   +1 more source

Whole-genome sequence of a human adenovirus species E strain identified from Kerala, India. [PDF]

Microbiol Resour Announc
Anukumar B, Kappala D, Jadhav SM, Nhavilthodi S, Peter A, Purushothaman SK.   +5 more
europepmc   +1 more source