User profiles for R. Sebra
Robert P. SebraProfessor, Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai Verified email at mssm.edu Cited by 23333 |
The psychencode project
Recent research on disparate psychiatric disorders has implicated rare variants in genes
involved in global gene regulation and chromatin modification, as well as many common …
involved in global gene regulation and chromatin modification, as well as many common …
Real-time DNA sequencing from single polymerase molecules
…, D Murphy, I Park, T Pham, M Phillips, J Roy, R Sebra… - Science, 2009 - science.org
We present single-molecule, real-time sequencing data obtained from a DNA polymerase
performing uninterrupted template-directed synthesis using four distinguishable fluorescently …
performing uninterrupted template-directed synthesis using four distinguishable fluorescently …
[HTML][HTML] An integrated map of structural variation in 2,504 human genomes
Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …
nucleotides among human genomes. Here we describe an integrated set of eight structural …
Long-read DNA sequencing: recent advances and remaining challenges
PE Warburton, RP Sebra - Annual Review of Genomics and …, 2023 - annualreviews.org
DNA sequencing has revolutionized medicine over recent decades. However, analysis of
large structural variation and repetitive DNA, a hallmark of human genomes, has been limited …
large structural variation and repetitive DNA, a hallmark of human genomes, has been limited …
[HTML][HTML] Origins of the E. coli Strain Causing an Outbreak of Hemolytic–Uremic Syndrome in Germany
Background A large outbreak of diarrhea and the hemolytic–uremic syndrome caused by an
unusual serotype of Shiga-toxin–producing Escherichia coli (O104:H4) began in Germany …
unusual serotype of Shiga-toxin–producing Escherichia coli (O104:H4) began in Germany …
Negative feedback control of neuronal activity by microglia
… Activation of A 1 R suppresses D1 neuron responses in the striatum both by limiting … R-mediated
inhibition of protein kinase A (PKA) activity 33,34 . In support of the idea that ADO–A 1 R …
inhibition of protein kinase A (PKA) activity 33,34 . In support of the idea that ADO–A 1 R …
[HTML][HTML] Extensive sequencing of seven human genomes to characterize benchmark reference materials
… /R orientation rather than the expected outward-facing R/F orientation). Reads were then
mapped to the hg19 reference genome using ‘bwa mem’ 6 with default settings, and duplicates …
mapped to the hg19 reference genome using ‘bwa mem’ 6 with default settings, and duplicates …
[HTML][HTML] Pathophysiology of SARS-CoV-2: the Mount Sinai COVID-19 autopsy experience
…, I Moultrie, KL Washington, J Treatman, R Sebra… - Modern …, 2021 - nature.com
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and its associated clinical
syndrome COVID-19 are causing overwhelming morbidity and mortality around the globe …
syndrome COVID-19 are causing overwhelming morbidity and mortality around the globe …
Assembly and diploid architecture of an individual human genome via single-molecule technologies
We present the first comprehensive analysis of a diploid human genome that combines
single-molecule sequencing with single-molecule genome maps. Our hybrid assembly markedly …
single-molecule sequencing with single-molecule genome maps. Our hybrid assembly markedly …
[HTML][HTML] Comparative analysis of tandem repeats from hundreds of species reveals unique insights into centromere evolution
Background Centromeres are essential for chromosome segregation, yet their DNA sequences
evolve rapidly. In most animals and plants that have been studied, centromeres contain …
evolve rapidly. In most animals and plants that have been studied, centromeres contain …