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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
The ENCODE (ENCyclopedia Of DNA Elements) Project
TLDR
The ENCyclopedia Of DNA Elements (ENCODE) Project is organized as an international consortium of computational and laboratory-based scientists working to develop and apply high-throughput approaches for detecting all sequence elements that confer biological function. Expand
Comparative analyses of multi-species sequences from targeted genomic regions
TLDR
The generation and analysis of over 12 megabases of sequence from 12 species, all derived from the genomic region orthologous to a segment of about 1.8 Mb on human chromosome 7 containing ten genes, show conservation reflecting both functional constraints and the neutral mutational events that shaped this genomic region. Expand
Maturation and Diversity of the VRC01-Antibody Lineage over 15 Years of Chronic HIV-1 Infection
TLDR
Over the course of the study period, VRC01-lineage clades showed continuous evolution, with rates of ∼2 substitutions per 100 nucleotides per year, comparable to that of HIV-1 evolution. Expand
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
TLDR
The general considerations in designing ClinSeq, preliminary results based on the generation of an initial 826 Mb of sequence data, the findings for several genes that serve as positive controls for the project, and the views about the potential implications are presented. Expand
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
TLDR
It is shown that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy. Expand
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.
TLDR
The quantitative and qualitative trade-offs concomitant with alignment method choice and the levels of technical error that need to be accounted for in applications that require multisequence alignments are described. Expand
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease
TLDR
The disease-associated NSVs in MEFV and TLR4 implicate innate immune and bacterial sensing mechanisms in BD pathogenesis and are associated with BD. Expand
Both normal and transforming PCPH proteins have guanosine diphosphatase activity but only the oncoprotein cooperates with Ras in activating extracellular signal-regulated kinase ERK1.
TLDR
expression of the PCPH and mt-PCPH proteins in Escherichia coli and the finding that the purified bacterial recombinant proteins have intrinsic guanosine diphosphatase (GDPase) activity are reported, suggesting the existence of significant functional differences between the mammalian and yeast enzymes. Expand
Gene-Based Sequencing Identifies Lipid-Influencing Variants with Ethnicity-Specific Effects in African Americans
TLDR
A comprehensive evaluation of five lipid candidate genes to identify variants with ethnicity-specific effects found that rs328 (LPL) and correlated variants were associated with higher HDLC and lower TG, and a stronger effect was observed on a “European” vs. “African” genetic background at this locus. Expand
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