martes, 13 de diciembre de 2016

Variant interpretations from Illumina double ClinVar data

Variant interpretations from Illumina double ClinVar data
National Institutes of Health, U.S. National Library of Medicine

Variant interpretations from Illumina double ClinVar data

Monday, December 12, 2016
On Dec 7, 2016, ClinVar released 138,334 variant interpretations submitted by Illumina Clinical Services Laboratory (ICSL) in San Diego, CA. This dataset represents a 57% increase in the number of submitted interpretations and makes ICSL the largest source of data in ClinVar. The contribution from ICSL also provides 78,590 novel variants to the database, an increase of 45% over the previous total of 173,782 variants.
The data were generated from exome sequencing; variants were interpreted when the associated gene was in a predefined list of genes associated with Mendelian disorders or when the gene-disease relationship had been manually curated. Information about the criteria that ICSL uses to interpret variants is available on the NCBI website.
ICSL has shared data through other NCBI resources as well, including the Genetic Testing Registry and the GeT-RM browser.
ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. Interpretations of variants are submitted to ClinVar by clinical testing laboratories, research laboratories, locus-specific databases, genetics clinics, expert panels, and professional societies that establish practice guidelines. The database currently holds 374,018 submitted interpretations representing 263,220 variants. ClinVar provides a public forum for variant interpretations and evidence, so that interpretations may be shared and subjected to peer review.

No hay comentarios:

Publicar un comentario