Illumina (United States)

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

Biological insights from 108 schizophrenia-associated genetic loci

Circulating microRNAs as stable blood-based markers for cancer detection

Improved approaches for the detection of common epithelial malignancies are urgently needed to reduce the worldwide morbidity and mortality caused by cancer. MicroRNAs (miRNAs) ...

Alternative isoform regulation in human tissue transcriptomes

Through alternative processing of pre-messenger RNAs, individual mammalian genes often produce multiple mRNA and protein isoforms that may have related, distinct or even opposin...

A second generation human haplotype map of over 3.1 million SNPs

The single-cell transcriptional landscape of mammalian organogenesis

Accurate whole human genome sequencing using reversible terminator chemistry

DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 b...

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Carrier testing for 448 severe childhood recessive diseases by next-generation sequencing has good predictive value and suggests that every individual carries about three diseas...

Efficient de novo assembly of single-cell bacterial genomes from short-read data sets