Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome

http://genome.cshlp.org/content/early/2013/05/28/gr.150706.112.abstract.html

The Genotype-Tissue Expression (GTEx) project : Nature Genetics : Nature Publishing Group

http://www.nature.com/ng/journal/v45/n6/full/ng.2653.html?WT.ec_id=NG-201306

SCAN: SNP and CNV Annotation Database

http://www.scandb.org/newinterface/about.html

SCAN is a large-scale database of genetics and genomics data associated to a web-interface and a set of methods and algorithms that can be used for mining the data in it. The database contains two categories of single nucleotide polymorphism (SNP) annotations:

Physical-based annotation where SNPs are categorized according to their position relative to genes (intronic, inter-genic, etc.) and according to linkage disequilibrium (LD) patterns (an inter-genic SNP can be annotated to a gene if it is in LD with variation in the gene).
Functional annotation where SNPs are classified according to their effects on expression levels, i.e. whether they are expression quantitative trait loci (eQTLs) for that gene.

Orange Visual programming

http://orange.biolab.si/features/

Genetic Risks World Map

http://geneworld.stanford.edu/hgdp.html#

Molecular genetic testing and the future of clinical genomics : Nature Reviews Genetics : Nature Publishing Group

http://www.nature.com/nrg/journal/v14/n6/full/nrg3493.html

Exomiser - Wellcome Trust Sanger Institute

http://www.sanger.ac.uk/resources/databases/exomiser/query/

Bioinformatics Tools for Multiple Sequence Alignment | EBI

http://www.ebi.ac.uk/Tools/msa/

Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer — NEJM

http://www.nejm.org/doi/full/10.1056/NEJMoa1213261

Trends in Genetics - Cryptic causation of human disease: reading between the (germ) lines

http://www.cell.com/trends/genetics/abstract/S0168-9525%2804%2900336-1

Somatic mutation involvement in different diseases.

BMC Bioinformatics | Abstract | CNV-TV: A robust method to discover copy number variation from short sequencing reads

http://www.biomedcentral.com/1471-2105/14/150/abstract?utm_content=buffer73da0&utm_source=buffer&utm_medium=twitter&utm_campaign=Buffer

Clonal evolution, genomic drivers and effects of therapy in chronic lymphocytic leukemia

http://clincancerres.aacrjournals.org/content/early/2013/04/25/1078-0432.CCR-13-0138.abstract

DDBJ Read Annotation Pipeline

https://p.ddbj.nig.ac.jp/pipeline/Login.do

MiSeq SOP - mothur

http://www.mothur.org/wiki/MiSeq_SOP

A Report of the James Watson Lecture at Yale University

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447206/