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NCBI Announcements

  • RefSeq release 68 available on FTP

    Nov 7, 2014

    The comprehensive RefSeq release 68 is now available on the FTP site, with over 66 million records describing 46,968,574 proteins, 9,069,704 RNAs, and sequences from 49,312 distinct NCBI TaxIDs.

  • dbVar releases 1000 Genomes Phase 3 structural variants

    Nov 4, 2014

    dbVar has released structural variation (SV) data generated by the 1000 Genomes Project Phase 3 as dbVar study estd214. This large dataset contains SV from 2,500 subjects, and comprises nearly 63,000 variant regions and over 6 million calls, including insertions, deletions, copy number variants (CNVs), mobile element insertions, indels (deletion-insertions), and inversions. The data are available on assemblies GRCh37 (submitted) and GRCh38 (remapped). Genotypes are currently available in VCF.

  • dbVar releases copy number variation (CNV) data from developmental delay study cited in Nature Reviews Genetics

    Nov 3, 2014

    dbVar recently released copy number variation (CNV) data from a study on dosage-sensitive genes (PMID: 25217958) that was highlighted in Nature Reviews Genetics. In the study, CNV analysis was combined with protein-truncating single-nucleotide variation (SNV) and targeted resequencing to identify dosage-sensitive genes causing developmental delay.

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