User profiles for David U. Gorkin
David GorkinEmory University Verified email at emory.edu Cited by 7757 |
[HTML][HTML] Expanded encyclopaedias of DNA elements in the human and mouse genomes
…, J Halow, EL Van Nostrand, P Freese, DU Gorkin… - Nature, 2020 - nature.com
The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate these …
govern the timing, magnitude, and cellular context of their production. To better delineate these …
[HTML][HTML] CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function
CTCF and the associated cohesin complex play a central role in insulator function and
higher-order chromatin organization of mammalian genomes. Recent studies identified a …
higher-order chromatin organization of mammalian genomes. Recent studies identified a …
[HTML][HTML] Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a suite …
data limits studies of human genetic diversity and disease association. Here, we apply a suite …
[PDF][PDF] Chromatin domains: the unit of chromosome organization
How eukaryotic chromosomes fold inside the nucleus is an age-old question that remains
unanswered today. Early biochemical and microscopic studies revealed the existence of …
unanswered today. Early biochemical and microscopic studies revealed the existence of …
Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding 1 . Translating these risk variants into mechanistic …
complex diseases are primarily non-coding 1 . Translating these risk variants into mechanistic …
A method to predict the impact of regulatory variants from DNA sequence
Most variants implicated in common human disease by genome-wide association studies (GWAS)
lie in noncoding sequence intervals. Despite the suggestion that regulatory element …
lie in noncoding sequence intervals. Despite the suggestion that regulatory element …
[PDF][PDF] The 3D genome in transcriptional regulation and pluripotency
It can be convenient to think of the genome as simply a string of nucleotides, the linear order
of which encodes an organism's genetic blueprint. However, the genome does not exist as …
of which encodes an organism's genetic blueprint. However, the genome does not exist as …
Single-nucleus analysis of accessible chromatin in developing mouse forebrain reveals cell-type-specific transcriptional regulation
Abstract Analysis of chromatin accessibility can reveal transcriptional regulatory sequences,
but heterogeneity of primary tissues poses a significant challenge in mapping the precise …
but heterogeneity of primary tissues poses a significant challenge in mapping the precise …
[HTML][HTML] An atlas of dynamic chromatin landscapes in mouse fetal development
The Encyclopedia of DNA Elements (ENCODE) project has established a genomic resource
for mammalian development, profiling a diverse panel of mouse tissues at 8 developmental …
for mammalian development, profiling a diverse panel of mouse tissues at 8 developmental …
[HTML][HTML] A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway
C Praetorius, C Grill, SN Stacey, AM Metcalf, DU Gorkin… - Cell, 2013 - cell.com
Sequence polymorphisms linked to human diseases and phenotypes in genome-wide
association studies often affect noncoding regions. A SNP within an intron of the gene encoding …
association studies often affect noncoding regions. A SNP within an intron of the gene encoding …