Characterization of genetic variations in maize has been challenging, mainly due to deterioration of collinearity between individual genomes in the species. An international consortium of maize research groups combined resources to develop the maize haplotype version 3 (HapMap 3), built from whole genome sequencing data from 1,218 maize lines, covering pre-domestication and domesticated Zea mays varieties across the world.A new computational pipeline was set up to process over 12 trillion bp of sequencing data, and a set of population genetics filters were applied to identify over 83 million variant sites.We identified polymorphisms in regions where collinearity is largely preserved in the maize species. However, the fact that the B73 genome used as the reference only represents a fraction of all haplotypes is still an important limiting factor.

It is well known that the microbiota of high fat (HF) diet-induced obese mice differs from that of lean mice, but to what extent this difference reflects the obese state or the diet is unclear. To dissociate changes in the gut microbiota associated with high HF feeding from those associated with obesity, we took advantage of the different susceptibility of C57BL/6JBomTac (BL6) and 129S6/SvEvTac (Sv129) mice to diet-induced obesity and of their different responses to inhibition of cyclooxygenase (COX) activity, where inhibition of COX activity in BL6 mice prevents HF diet-induced obesity, but in Sv129 mice accentuates obesity.
Using HiSeq-based whole genome sequencing we identified taxonomic and functional differences in the gut microbiota of the two mouse strains fed regular low fat or HF diets with or without supplementation with the COX-inhibitor, indomethacin.
Here we present the sequence assemblies and annotations for those 54 samples, together with the gene catalogue and relevative abundance levels of both genes and OTUs. It is hoped these data can be used for comparison in future studies of a similar design.

Major depressive disorder (MDD) is one of the most frequently encountered forms of mental illness and a leading cause of disability worldwide. However, due to the high heterogeneity of the disease, no robustly replicated genome loci have been identified. We have collected more than 12000 samples from 45 cities in China collaborated with local hospital. Most of the data were collected from 2007 to 2010 in different batches. Here, we performed low-coverage whole-genome sequencing of 5,303 Chinese women with recurrent MDD selected to reduce phenotypic heterogeneity, and 5,337 controls screened to exclude MDD. The sequencing reads were aligned to human reference genome GRCH37 and an average sequencing depth of 1.7x were achieved. Based on this dataset, we identified about 32 million SNPs and the association of them with MDD was analyzed. The availability of this big dataset will be vey helpful for the genetic studies of other complex trait in Chinese population. For the data available here are bam files storing the mapping result for each samples.

Esophageal squamous cell carcinoma (ESCC) is the sixth most lethal cancer worldwide and the fourth most lethal cancer in China. Although copy number alterations and somaticpoint mutations associated with the development of ESCC have been identified by array-based technologies and genome-wide studies respectively. The genomic characterization of ESCC from different stages of the disease has not been explored and is likely to reveal additional oncogenic mechanisms. Here we have performed either whole-genome sequencing or whole-exome sequencing on 51 stage I and 53 stage III ESCC patients to characterize the genomic alterations that occur during the various clinical stages of ESCC, and further validated these changes in 36 atypical hyperplasia samples.
Due to the sensitive nature of this dataset it is being hosted in the secure restricted access database European Genome-Phenome Archive at the EBI. It has been assigned the accession number EGAD00001001487.
To gain access to this dataset you will need to apply for permission from the Shanxi Medical University and BGI Data Access Committee (DAC). There are two forms available to download from GigaDB FTP server (below), both should be completed and emailed to Dr Yongping Cui, who is the named representative of the combined Shanxi Medical Uni and BGI DAC.
After sending the forms to the DAC you will be contacted either by the DAC to decline your application or from the EGA with login details if your application is approved. This process can take several days.

The human major histocompatibility complex (MHC) has been shown to be associated with numerous diseases. However, it remains a challenge to pinpoint causal variants of these associations due to the ex-treme complexity of the region. We thus sequenced the entire 5 Mb MHC region in 20,635 individuals of Han Chinese ethnicity (10,689 controls and 9,946 psoriasis patients) and constructed a Han-MHC da-tabase which included both variants and HLA gene typing results with high accuracy. We further identi-fied multiple independent novel susceptibility loci in HLA-C, HLA-B, HLA-DPB1, BTNL2 and an inter-genic variant, rs118178193 for psoriasis and confirmed the well-established susceptibility locus HLA-C*06:02. These discovered psoriasis-associated loci in MHC region were markedly different from those described in Caucasian population in a recent analysis and highlights the importance of generating population-specific MHC databases for studies of complex disease. We anticipate that our Han-MHC reference panel built by deep sequencing of a large number of samples will serve as a useful tool for investigating the role of the MHC region in a variety of diseases and thus advance our understanding of the pathogenesis of these disorders.

Viral infection causes multiple forms of human cancer, and human papillomavirus (HPV) infection is the primary factor in cervical carcinomas. Single-cell RNA-seq studies highlight the tumor heterogeneity of most cancers, but virally induced tumors have not been studied. HeLa is a well characterized HPV+ cervical cancer cell line.We developed a new high-throughput platform to prepare single-cell RNA on a nanoliter scale based on a customized microwell chip. Using this method, we successfully amplified full-length transcripts of 669 single HeLa S3 cells, 40 of which were randomly selected to perform single-cell RNA sequencing. On the basis of this data, we obtained a comprehensive understanding of the heterogeneity of HeLa S3 cells in terms of gene expression, alternative splicing, and gene fusions. Furthermore, by co-expression analysis we can identify a high diversity of HPV-18 gene expression and splicing at the single-cell level. In addition to providing a characterization of the transcriptome of HeLa S3 cells at the single-cell level, our study demonstrates the power of single-cell RNA-seq analysis of virally infected cells and cancers.

Available here is the first draft genomic sequence of the duck (Anas platyrhynchos). Duck is a member of Anatidae, a family of birds that include geese and swans. However, duck is an economically important waterfowl serving as a source of meat, eggs and feathers; though, of special interest to agriculture and medicine is that fact that the duck is a principal natural host of influenza A viruses and harbours all subtypes of 16 haemagglutinin and 9 neuraminidase subtypes currently known, except for H13 and H16 subtypes.
Using llumina Genome Analyser sequencing technology the genome of a 10-week old female Beijing duck was sequenced and a total 77 Gb of paired-end reads (approximately 64-fold coverage of the whole genome) was generated with an average length of 50 bp. Using SOAPdenovo to combine short reads, a draft genome assembly was constructed consisting of 78,487 scaffolds and covered 1.1 Gb. The contig N50 and scaffold N50 values were 26 kb and 1.2 Mb respectively. Super scaffolds were constructed and chromosomal sequences created according to the duck genetic map this resulted in 47 superscaffolds which contained 225 scaffolds and spanned 289 Mb. Transcriptomes were also generated from several different tissues, comprising 1.87 million ESTs, and approximately 121 million 75-bp and 917 million 90-bp paired-end reads, which were generated using either the 454/Roche Life Sciences Analyzer or Illumina Genome sequencing technology.

Here we provide the first de novo haplotype-resolved diploid genome sequence of an Asian individual using a unique de novo assembly pipeline. Our pipeline uses fosmid pooling and whole genome shotgun strategies, based on next generation sequencing (NGS) technology. The assembled genome contains 5.15 Gb, with a haplotype N50 of 484 kb. This haplotype-resolved genome represents the most complete genome assembly so far. Our analysis further identified previously undetected indels and novel coding sequences, and thus provides the most complete representation of an individuals genetic variation.
We generated ~614,850 fosmid clones ranging from 20 kb-80 kb with a mean of 36kb, approximately 30 fosmid clones were pooled and each pool had one or two DNA libraries sequenced using Hiseq 2000. In total, 1,712 Gb of raw sequence data was generated for all the pooled fosmid libraries. Please see the linked paper for assembly pipeline details. We then analysed the newly generated haploid-resolved diploid genome (HDG) for SNPs, INDELs, inversions and translocations, of which we identified 3,580,000 SNPs, 762,000 short INDELs (<50bp) and 30,000 long INDELs, 111 inversions and 168 translocations.

No description available

Available here is the first draft genome sequence of the Tibetan ground tit (Pseudopodoces humilis) also known as Humes Groundpecker. This bird is native to the Qinghai-Tibet Plateau (QTP) or the roof of the world, which has become a focus for many biological studies due to the extreme environmental conditions, and the genetic mechanisms of high-altitude adaptation has never been studied. Controversy also exists regarding the ground tits phylogeny formerly thought to be part of the Corvidae family, recent phylogenetic analysis have determined this to not be the case.
A 1.04 Gb assembled draft genome sequence was generated that covered 95.4% of the whole genome. The scaffold N50 and contig N50 values were 16.3 Mb and 164.7 Kb respectively. High accuracy at the sequencing level was ensured, where the average sequencing depth of the ground tit assembly was 96×, and 99% of the assembly had at least 20× coverage. This data contributes to the study of avian evolutionary history and provides new insights into the tits adaptation to extreme environmental conditions.