Results 11 to 20 of about 10,086,238 (407)

Single-cell genomics meets human genetics. [PDF]

open access: yesNat Rev Genet, 2023
Cuomo ASE   +4 more
europepmc   +2 more sources

HUMAN GENETICS [PDF]

open access: bronzeAnnual Review of Genetics, 1967
H. Eldon Sutton
openalex   +3 more sources

A sequence-based global map of regulatory activity for deciphering human genetics

open access: yesNature Genetics, 2021
Epigenomic profiling has enabled large-scale identification of regulatory elements, yet we still lack a systematic mapping from any sequence or variant to regulatory activities.
Kathleen M. Chen   +3 more
semanticscholar   +1 more source

Biochemistry of Human Genetics [PDF]

open access: bronzeArchives of Neurology, 1960
Designated with pride as one of the sponsor's anniversary publications commemorating 10 years of effective promotion of "international cooperation in medical and chemical research," this volume containing the proceedings of a well-organized symposium on the biochemistry of gene action is another feather in the cap of the Ciba Foundation.
P. H. A. Sneath
openalex   +4 more sources

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

open access: yesScientific Reports, 2021
SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD).
Christine Unsicker   +5 more
doaj   +1 more source

Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools. [PDF]

open access: yes, 2020
Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within
Fox, Keolu   +2 more
core   +2 more sources

Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations

open access: yesHGG Advances, 2023
Summary: Transcriptome prediction models built with data from European-descent individuals are less accurate when applied to different populations because of differences in linkage disequilibrium patterns and allele frequencies.
Daniel S. Araujo   +15 more
doaj   +1 more source

Using human genetics to understand the disease impacts of testosterone in men and women

open access: yesNature Network Boston, 2020
Testosterone supplementation is commonly used for its effects on sexual function, bone health and body composition, yet its effects on disease outcomes are unknown.
K. Ruth   +24 more
semanticscholar   +1 more source

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

open access: yesBMC Research Notes, 2020
Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs).
Katia Margiotti   +8 more
doaj   +1 more source

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