The Winter 2019 Release of the Human Gene Mutation Database (HGMD) Professional is available, expanding the world\u2019s largest collection of human inherited disease mutations to over 275,000 entries\u2013that\u2019s 11,699 more than the previous release.<\/p>\n\n\n\n

HGMD Professional is the de facto standard resource for comprehensive coverage of published germline mutations in nuclear genes that underlie, or are closely associated with, human inherited disease.\u00a0<\/p>\n\n\n\n

Here's what's new in HGMD<\/h4>\n\n\n\n

Genomic coordinates and HGVS nomenclature (gross deletion dataset)<\/h4>\n\n\n\n

A subset of the HGMD gross deletions has now been mapped to both builds of the reference genome (NCBI38\/hg38 and legacy NCBI37\/hg19). Due to the absence of accurate breakpoint data for most of these lesions, 3,348 entries have been mapped in this release. HGVS nomenclature is also provided for this dataset.<\/p>\n\n\n\n

Additional predicted HGVS descriptions<\/h4>\n\n\n\n

In addition to the standardized HGVS descriptions provided by HGMD, users can now view predicted HGVS nucleotide-level descriptions based on non-canonical RefSeq and Ensembl transcripts.<\/p>\n\n\n\n

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Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1996, HGMD Professional provides users with a unique resource that can be utilized not only to obtain evidence to support the pathological authenticity and\/or novelty of detected gene lesions and to acquire an overview of the mutational spectra for specific genes, but also as a knowledge base for use in bioinformatics and whole-genome screening projects. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.<\/p>\n\n\n\n

Expert-curated content updated quarterly<\/h4>\n\n\n\n

The number of disease-associated germline mutations published per year has more than doubled in the past decade (Figure 1). As rare and novel genetic mutations continue to be uncovered, having access to the latest scientific evidence is critical for timely interpretations of next-generation sequencing (NGS) data.<\/p>\n\n\n\n

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