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Transcriptome and genome sequencing uncovers functional variation in humans

Se sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project—the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences discover extremely widespread genetic variation affecting the regulation of most genes.
Springer (opens in a new tab)

Great ape genetic diversity and population history

This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.
Springer (opens in a new tab)

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

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.
Nature (opens in a new tab)

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

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.
Nature (opens in a new tab)

Non-coding recurrent mutations in chronic lymphocytic leukaemia

An integrated portrait of the CLL genomic landscape is provided, new recurrent driver mutations of the disease are identified, and clinical interventions that may improve the management of this neoplasia are suggested.
Springer (opens in a new tab)

Megabase Level Sequencing Reveals Contrasted Organization and Evolution Patterns of the Wheat Gene and Transposable Element Spaces[W]

This article describes the molecular analysis of large contiguous sequences produced from the bread wheat genome. It provides novel insights into the number, distribution, and density of genes along…
ASPB (opens in a new tab)

Whole-genome bisulfite sequencing of two distinct interconvertible DNA methylomes of mouse embryonic stem cells.

PubMed (opens in a new tab)

Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia

An epigenomic scenario in which differential methylation in the gene body may have functional and clinical implications in leukemogenesis is proposed and recognized a DNA methylation signature that distinguishes new clinico-biological subtypes of CLL.
Nature (opens in a new tab)

International network of cancer genome projects

This corrects the article DOI: 10.1038/nature08987
Nature (opens in a new tab)

Transcription initiation platforms and GTF recruitment at tissue-specific enhancers and promoters

It is proposed that TIPs represent important new regulatory hallmarks of the genome by identifying genomic features called transcriptional initiation platforms (TIPs) characterized by large areas of Pol II and GTF recruitment at promoters, intergenic and intragenic regions.
Nature (opens in a new tab)
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