Nº cta de mi papi

•Descargar como PPTX, PDF•

0 recomendaciones•162 vistas

Jenny Vasquez Vera

Nº CTA DE MI PAPI 4159695100 4-891-993-400( aragundiguevara) 3376222404 maktra de coro 4881832500( TACURI GUEVARA) 090623604 cta. casa mutualista pichincha Viviannamireyamejia reinoso

Más contenido relacionado

Destacado

Nana tgt

ProceduralTerrainGeneration

ProceduralTerrainGeneration

ProceduralTerrainGeneration

Vladimir Menshikov

Noticia de-marzo

Noticia de-marzo

Noticia de-marzo

DoS Attacks

Vladimir Menshikov

We hypothesize that efficient sharing of genetic variants and phenotype data from other species may help overcoming the main hurdle in current whole exome (WES) and whole genome sequencing (WGS) studies aimed at cracking rare disease: finding sufficient evidence to prove causality. Roughly, studies give a yield of 1/3 proven causality, 1/3 likely causality and 1/3 unresolved cases. Obviously, using other world-wide resources to find additional positive or negative evidence for candidate variants remaining might improve overall yield. An important obstacle here is that information from other organisms is often not easy to find and access in an interoperable manner. Furthermore, lack of standards and metadata may interfere with reuse of data. Reference protein sequences from other organisms are already used to predict amino acid conservation scores [1, 2]. These might be improved if protein variants in individual races of certain species could be included in the calculations. When these variants would be annotated with the frequency and their functional effects, this information would be even more valuable. Variants causing disease in animals are currently stored in Online Mendelian Inheritance in Animals (OMIA, http://omia.angis.org.au/). For several species, including dogs, the research community has partially adopted standards resembling HGNC and HGVS nomenclature. Further standardization may contribute to data from other species becoming more FAIR (Findable, Accessible, Interoperable, and Re-usable) (FAIR data, http://www.dtls.nl/fair-data/). As a first step, we have established instances of the variant frequency database Varda (Dog Varda, http://varda.generade.nl) and the LOVD3 gene variant database platform [3] for the dog (Dog LOVD, http://databases. generade.nl/dog/). We demonstrate that variants from VCF files can be stored and annotated with their frequency in Varda. Information about the functional effects of variants and the resulting phenotypes in individual animals can be stored in the Canis familiaris LOVD. We hope that this example will be followed by research and diagnostic centers world-wide for the dog and other species. [1] PolyPhen-2, PMID:20354512, http://genetics.bwh.harvard.edu/pph2/ [2] SIFT, PMID:11337480, http://sift.bii.a-star.edu.sg/ [3] LOVD, Leiden Open-source Variation Database, PMID:21520333, http://www.LOVD.nl

Sharing dog exome/genome variant and phenotype data in Varda and LOVD3 - Pete...

Sharing dog exome/genome variant and phenotype data in Varda and LOVD3 - Pete...

Sharing dog exome/genome variant and phenotype data in Varda and LOVD3 - Pete...

Human Variome Project

Minna no nihongo ii kanji renshuuchou

Minna no nihongo ii kanji renshuuchou

Minna no nihongo ii kanji renshuuchou

Gmr2301 Breeding Transgenic Cattle For Human Therapeutics

Gmr2301 Breeding Transgenic Cattle For Human Therapeutics

Gmr2301 Breeding Transgenic Cattle For Human Therapeutics

Emotional Intelligence

Emotional Intelligence

Emotional Intelligence

Crack repair techniques

Crack repair techniques

Crack repair techniques

Entrepreneurial Venture

Entrepreneurial Venture

Entrepreneurial Venture

Destacado (10)

Nana tgt

ProceduralTerrainGeneration

ProceduralTerrainGeneration

ProceduralTerrainGeneration

Noticia de-marzo

Noticia de-marzo

Noticia de-marzo

DoS Attacks

Sharing dog exome/genome variant and phenotype data in Varda and LOVD3 - Pete...

Sharing dog exome/genome variant and phenotype data in Varda and LOVD3 - Pete...

Sharing dog exome/genome variant and phenotype data in Varda and LOVD3 - Pete...

Minna no nihongo ii kanji renshuuchou

Minna no nihongo ii kanji renshuuchou

Minna no nihongo ii kanji renshuuchou

Gmr2301 Breeding Transgenic Cattle For Human Therapeutics

Gmr2301 Breeding Transgenic Cattle For Human Therapeutics

Gmr2301 Breeding Transgenic Cattle For Human Therapeutics

Emotional Intelligence

Emotional Intelligence

Emotional Intelligence

Crack repair techniques

Crack repair techniques

Crack repair techniques

Entrepreneurial Venture

Entrepreneurial Venture

Entrepreneurial Venture

Nº cta de mi papi

1. Nº CTA DE MI PAPI 4159695100 4-891-993-400( aragundiguevara) 3376222404 maktra de coro 4881832500( TACURI GUEVARA) 090623604 cta. casa mutualista pichincha Viviannamireyamejia reinoso