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GENCODE: the reference human genome annotation for The ENCODE Project.
TLDR
This work has examined the completeness of the transcript annotation and found that 35% of transcriptional start sites are supported by CAGE clusters and 62% of protein-coding genes have annotated polyA sites, and over one-third of GENCODE protein-Coding genes aresupported by peptide hits derived from mass spectrometry spectra submitted to Peptide Atlas. Expand
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
TLDR
Functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project are reported, providing convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts. Expand
IntAct: an open source molecular interaction database
TLDR
IntAct provides an open source database and toolkit for the storage, presentation and analysis of protein interactions, and allows exploring interaction networks in the context of the GO annotations of the interacting proteins. Expand
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
TLDR
The patterns of somatic mutation, supported by functional and clinical analyses, strongly indicate that the recurrent NOTCH1, MYD88 and XPO1 mutations are oncogenic changes that contribute to the clinical evolution of the disease. Expand
An ATPase domain common to prokaryotic cell cycle proteins, sugar kinases, actin, and hsp70 heat shock proteins.
TLDR
A common evolutionary origin for all of the proteins in this class is proposed, and a pattern of amino acid properties required at each position is defined, which significantly matches sugar kinases, such as fuco-, glucono-, xylulo-, ribulo-, and glycerokinase. Expand
A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
TLDR
An overview of the project and the resources it is generating and the application of ENCODE data to interpret the human genome are provided. Expand
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia
TLDR
This work provides the first comprehensive catalog of somatic mutations in CLL with relevant clinical correlates and defines a large set of new genes that may drive the development of this common form of leukemia. Expand
Correlated mutations and residue contacts in proteins
TLDR
A simple and general method is presented to analyze correlations in mutational behavior between different positions in a multiple sequence alignment to predict contact maps for each of 11 protein families and compare the result with the contacts determined by crystallography. Expand
An integrated encyclopedia of DNA elements in the human genome
TLDR
The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research. Expand
Distinct DNA methylomes of newborns and centenarians
TLDR
This study constitutes a unique DNA methylation analysis of the extreme points of human life at a single-nucleotide resolution level and demonstrated DNA methylomes in the crossroad between the newborn and the nonagenarian/centenarian groups. Expand
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