Results 211 to 220 of about 1,251,136 (266)

Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References. [PDF]

Annu Rev Genomics Hum Genet
Taylor DJ, Eizenga JM, Li Q, Das A, Jenike KM, Kenny EE, Miga KH, Monlong J, McCoy RC, Paten B, Schatz MC.   +10 more
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Anticipatory gaps challenge the public governance of heritable human genome editing. [PDF]

J Med Ethics
Rueda J, Segers S, Hopster J, Kudlek K, Liedo B, Marchiori S, Danaher J.   +6 more
europepmc   +1 more source

Identification of Small Open Reading Frame-encoded Proteins in the Human Genome. [PDF]

Genomics Proteomics Bioinformatics
Kore H, Okano S, Datta KK, Thorp J, Periasamy P, Divate M, Liyanage U, Hartel G, Nagaraj SH, Gowda H.   +9 more
europepmc   +1 more source

Ethics choices during the Human Genome Project reflected their policy world, not ours. [PDF]

Cell Genom
LoTempio JE, Donohue CR, Moreno JD, Cook-Deegan R.   +3 more
europepmc   +1 more source

The 1% gift to humanity: The Human Genome Project II. [PDF]

Cell Res
Liu W, Li Y, Patrinos GP, Xu S, Thong MK, Chen Z, Crawley FP, Li L, Ekmekci PE, Drmanac R, Cheong W, Benamouzig R, Nguyen Q, Volchkov P, Reichardt JKV, Carninci P, Majumder P, Jin X, Church G, Wang J, Xu X.   +20 more
europepmc   +1 more source

Polymorphic pseudogenes in the human genome - a comprehensive assessment. [PDF]

Hum Genet
Lopes-Marques M, Peixoto MJ, Cooper DN, Prata MJ, Azevedo L, Castro LFC.   +5 more
europepmc   +1 more source

Unwrapping the human genome.

Indian journal of ophthalmology, 2001
openaire   +2 more sources

Pan-genomics in the human genome era

Nature Reviews Genetics, 2020
Since the early days of the genome era, the scientific community has relied on a single 'reference' genome for each species, which is used as the basis for a wide range of genetic analyses, including studies of variation within and across species. As sequencing costs have dropped, thousands of new genomes have been sequenced, and scientists have come ...
Steven L Salzberg, Rachel Sherman, Salzberg Steven L   +2 more
exaly   +4 more sources

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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.
B R, Jasny, D, Kennedy
openaire   +2 more sources