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cancergeneticgenomiclife sciencesvcf
Precision medicine refers to the use of prevention and treatment strategies that are tailored to the unique features of each individual and their disease. In the context of cancer this might involve the identification of specific mutations shown to predict response to a targeted therapy. The biomedical literature describing these associations is large and growing rapidly. Currently these interpretations exist largely in private or encumbered databases resulting in extensive repetition of effort. Realizing precision medicine will require this information to be centralized, debated and interpret...
bamcancergeneticgenomiclife sciencesvcf
The International Cancer Genome Consortium (ICGC) coordinates projects with the common aim of accelerating research into the causes and control of cancer. The PanCancer Analysis of Whole Genomes (PCAWG) study is an international collaboration to identify common patterns of mutation in whole genomes from ICGC. More than 2,400 consistently analyzed genomes corresponding to over 1,100 unique ICGC donors are now freely available on Amazon S3 to credentialed researchers subject to ICGC data sharing policies.
bambioinformaticsbiologyCaenorhabditis elegansfastqgatk-svgenetic mapsgenomegenome wide association studygenomiclife sciencesshort read sequencingvariant annotationvcf
The Caenorhabditis Natural Diversity Resource (CaeNDR) is a data repository and analysis hub of wild strains of selfing Caenhorabditis species C. elegans, C. briggsae, and C. tropicalis from around the world to facilitate discovery of genetic variation across all three species through genome-wide association mappings to correlate genotype with phenotype and identify genetic variation underlying quantitative traits.
geneticgenomiclife sciencesreference indexvcf
Several reference genomes to enable translation of whole human genome sequencing to clinical practice. On 11/12/2020 these data were updated to reflect the most up to date GIAB release.
bambioinformaticscoronavirusCOVID-19fastafastqgeneticgenomicglobalhealthlife scienceslong read sequencingSARS-CoV-2vcfviruswhole genome sequencing
The Sequence Read Archive (SRA) is the primary archive of high-throughput sequencing data, hosted by the National Institutes of Health (NIH). The SRA represents the largest publicly available repository of SARS-CoV-2 sequencing data. This dataset was created by DNAstack using SARS-CoV-2 sequencing data sourced from the SRA. Where possible, raw sequence data were processed by DNAstack through a unified bioinformatics pipeline to produce genome assemblies and variant calls. The use of a standardized workflow to produce this harmonized dataset allows public data generated using different methodol...
genetichealthHomo sapienslife scienceslong read sequencingmappingvariant annotationvcfwhole genome sequencing
Reference data bundle for analyzing HiFi human whole genome sequencing data
autism spectrum disorderbamgeneticgenomiclife sciencesvcfwhole genome sequencing
iHART is the Hartwell Foundation’s Autism Research and Technology Initiative. This release contains whole genome data from over 1000 families with 2 or more children with autism, of which biomaterials were provided by the Autism Genetic Resource Exchange (AGRE).