Results 321 to 330 of about 10,751,278 (348)

Genetically regulated eRNA expression predicts chromatin contact frequency and reveals genetic mechanisms at GWAS loci. [PDF]

Nat Commun
Betti MJ, Lin P, Aldrich MC, Gamazon ER.
europepmc   +1 more source

Long-read transcriptomics of a diverse human cohort reveals widespread ancestry bias in gene annotation

Clavell-Revelles P, Reese F, Carbonell-Sala S, Degalez F, Oliveros W, Arnan C, Guigó R, Melé M.   +7 more
europepmc   +1 more source

Interactive visualization and interpretation of pangenome graphs by linear reference-based coordinate projection and annotation integration. [PDF]

Genome Res
Miao Z, Yue JX.
europepmc   +1 more source

Systematic revelation and meditation on the significance of long exons using representative eukaryotic genomes. [PDF]

BMC Genomics
Duan Y, Cao Q.
europepmc   +1 more source

Human Body Single-Cell Atlas of 3D Genome Organization and DNA Methylation

Zhou J, Wu Y, Liu H, Tian W, Castanon RG, Bartlett A, Zhang Z, Yao G, Shi D, Clock B, Marcotte S, Nery JR, Liem M, Claffey N, Boggeman L, Barragan C, e Drigo RA, Weimer AK, Shi M, Cooper-Knock J, Zhang S, Snyder MP, Preissl S, Ren B, O’Connor C, Chen S, Luo C, Dixon JR, Ecker JR.   +28 more
europepmc   +1 more source

O26: Analysis of patient-reported outcomes and a functional assessment from 3-year nitisinone treatment trial in patients with alkaptonuria

Genetics in Medicine Open
Kathryn Spears, Francis Rossignol, Monique Perry, Joy Bryant, William Gahl, Wendy Introne   +5 more
doaj  

P143: Clinical investigation of bleeding diatheses in patients with Hermansky-Pudlak syndrome*

Genetics in Medicine Open
Christopher Song, Wendy Introne, Kevin O'Brien, Srikar Kuppa, Thomas Markello, William Gahl, May Christine Malicdan, Allan Alexander   +7 more
doaj  

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The Human Genome

Science, 2001
Humanity has been given a great gift. With the completion of the human genome sequence, we have received a powerful tool for unlocking the secrets of our genetic heritage and for finding our place among the other participants in the adventure of life.
Donald Kennedy, Barbara R. Jasny
  +8 more sources

Illuminating the human genome

Histochemistry and Cell Biology, 2000
The identification and analysis of novel genes and their encoded protein products remains a vigorous area of research in biology today. Worldwide genomic and cDNA sequencing projects are now identifying new molecules every day and the need for methodologies to functionally characterise these proteins has never been greater.
Simpson, Jeremy C, Neubrand, Veronika Elisabeth, Wiemann, Stefan, Pepperkok, Rainer   +3 more
openaire   +4 more sources

The Protein Kinase Complement of the Human Genome

Science, 2002
We have catalogued the protein kinase complement of the human genome (the “kinome”) using public and proprietary genomic, complementary DNA, and expressed sequence tag (EST) sequences.
G. Manning, D. Whyte, R. Martinez, T. Hunter, S. Sudarsanam   +4 more
semanticscholar   +1 more source