[HTML][HTML] Transcriptional regulation and its misregulation in disease

TI Lee, RA Young - Cell, 2013 - cell.com
The gene expression programs that establish and maintain specific cell states in humans
are controlled by thousands of transcription factors, cofactors, and chromatin regulators …

The promise of whole-exome sequencing in medical genetics

B Rabbani, M Tekin, N Mahdieh - Journal of human genetics, 2014 - nature.com
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …

Transcriptional basis of mouse and human dendritic cell heterogeneity

CC Brown, H Gudjonson, Y Pritykin, D Deep… - Cell, 2019 - cell.com
Dendritic cells (DCs) play a critical role in orchestrating adaptive immune responses due to
their unique ability to initiate T cell responses and direct their differentiation into effector …

SingleCellNet: a computational tool to classify single cell RNA-Seq data across platforms and across species

Y Tan, P Cahan - Cell systems, 2019 - cell.com
Single-cell RNA-seq has emerged as a powerful tool in diverse applications, from
determining the cell-type composition of tissues to uncovering regulators of developmental …

GENCODE: the reference human genome annotation for The ENCODE Project

J Harrow, A Frankish, JM Gonzalez, E Tapanari… - Genome …, 2012 - genome.cshlp.org
The GENCODE Consortium aims to identify all gene features in the human genome using a
combination of computational analysis, manual annotation, and experimental validation …

PhosphoSitePlus: a comprehensive resource for investigating the structure and function of experimentally determined post-translational modifications in man and …

PV Hornbeck, JM Kornhauser, S Tkachev… - Nucleic acids …, 2012 - academic.oup.com
Abstract PhosphoSitePlus (http://www. phosphosite. org) is an open, comprehensive,
manually curated and interactive resource for studying experimentally observed post …

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

KD Pruitt, T Tatusova, GR Brown… - Nucleic acids …, 2012 - academic.oup.com
Abstract The National Center for Biotechnology Information (NCBI) Reference Sequence
(RefSeq) database is a collection of genomic, transcript and protein sequence records …

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

H Yang, PN Robinson, K Wang - Nature methods, 2015 - nature.com
Prior biological knowledge and phenotype information may help to identify disease genes
from human whole-genome and whole-exome sequencing studies. We developed …

UniProt Knowledgebase: a hub of integrated protein data

M Magrane, UP Consortium - Database, 2011 - academic.oup.com
Abstract The UniProt Knowledgebase (UniProtKB) acts as a central hub of protein
knowledge by providing a unified view of protein sequence and functional information …

Abundant pleiotropy in human complex diseases and traits

S Sivakumaran, F Agakov, E Theodoratou… - The American Journal of …, 2011 - cell.com
We present a systematic review of pleiotropy among SNPs and genes reported to show
genome-wide association with common complex diseases and traits. We find abundant …