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The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to underlie, or are closely associated with human inherited disease. At the time of writing (June 2020), the database contains in excess of 289,000 different gene lesions identified in over 11,100 genes manually curated from 72,987 articles published in over 3100 peer-reviewed journals. There are primarily two main groups of users who utilise HGMD on a regular basis; research scientists and clinical diagnosticians. This review aims to highlight how to make the most out of HGMD data in each setting.

The Human Gene Mutation Database (HGMD ® ) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD ( http://www.hgmd.org ) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.

The Human Gene Mutation Database (HGMD ® ) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD ( https://www.hgmd.cf.ac.uk ) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH.

Gorillas are humans’ closest living relatives after chimpanzees, and are of comparable importance for the study of human origins and evolution. Here we present the assembly and analysis of a genome sequence for the western lowland gorilla, and compare the whole genomes of all extant great ape genera. We propose a synthesis of genetic and fossil evidence consistent with placing the human–chimpanzee and human–chimpanzee–gorilla speciation events at approximately 6 and 10 million years ago. In 30% of the genome, gorilla is closer to human or chimpanzee than the latter are to each other; this is rarer around coding genes, indicating pervasive selection throughout great ape evolution, and has functional consequences in gene expression. A comparison of protein coding genes reveals approximately 500 genes showing accelerated evolution on each of the gorilla, human and chimpanzee lineages, and evidence for parallel acceleration, particularly of genes involved in hearing. We also compare the western and eastern gorilla species, estimating an average sequence divergence time 1.75 million years ago, but with evidence for more recent genetic exchange and a population bottleneck in the eastern species. The use of the genome sequence in these and future analyses will promote a deeper understanding of great ape biology and evolution. The genome of a western lowland gorilla has been sequenced and analysed, completing the genome sequences of all great ape genera, and providing evidence for parallel accelerated evolution in chimpanzee, gorilla and human lineages at a number of loci. Hominid genomes: gorilla makes four The genome of the gorilla has been sequenced, making it possible to compare the DNA of the four surviving hominid genera: human, chimpanzee, gorilla and orang-utan. The data — mainly from a female western lowland gorilla named Kamilah, but also from other gorillas representing both the western lowland and eastern lowland sub-species — imply that in almost one-third of its genome, the gorilla is closer to the human or chimpanzee than the human and chimp are to each other. Around 500 genes show accelerated evolution in gorilla, human and chimpanzee lineages, and there is evidence for parallel acceleration, particularly in genes associated with hearing. On the basis of genetic and fossil evidence, the authors suggest that the human–chimpanzee and human–chimpanzee–gorilla speciation events occurred at around 6 million and 10 million years ago respectively, whereas the two gorilla species diverged around 1.75 million years ago.

The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ‐line mutations in nuclear genes underlying or associated with human inherited disease (www.hgmd.org). Data catalogued includes: single base‐pair substitutions in coding, regulatory and splicing‐relevant regions; micro‐deletions and micro‐insertions; indels; triplet repeat expansions as well as gross deletions; insertions; duplications; and complex rearrangements. Each mutation is entered into HGMD only once in order to avoid confusion between recurrent and identical‐by‐descent lesions. By March 2003, the database contained in excess of 39,415 different lesions detected in 1,516 different nuclear genes, with new entries currently accumulating at a rate exceeding 5,000 per annum. Since its inception, HGMD has been expanded to include cDNA reference sequences for more than 87% of listed genes, splice junction sequences, disease‐associated and functional polymorphisms, as well as links to data present in publicly available online locus‐specific mutation databases. Although HGMD has recently entered into a licensing agreement with Celera Genomics (Rockville, MD), mutation data will continue to be made freely available via the Internet. Hum Mutat 21:577–581, 2003. © 2003 Wiley‐Liss, Inc.

Density functional theory (DFT) has been applied to study potential ammonia borane (AB) dehydrogenation pathways via new bifunctional ruthenium-based catalysts, alongside their computationally-designed iron-based counterparts (i.e., four catalysts), using the wB97XD (dispersion-included) functional. The efficiency of each catalyst was under scrutiny based on the addition of ammonia borane, with a focus on the associated activation-energy barriers, whilst hydrogen release from the catalyst was also studied in detail. Here, natural-population analysis charges were key quantities of interest. It was found that the iron-based catalysts display more promising dehydrogenation energy barriers vis-

The new mixed-metal complex { anti -[( p -cymene)RuCl]- μ -[ κ 2 - P , P ′; κ 1 - P ′′-(PPh 2 CH 2 ) 3 CMe]-[AuCl]}PF 6 and its cluster derivative { anti -[( p -cymene)RuCl]- μ -[ κ 2 - P , P ′; κ 1 - P ′′-(PPh 2 CH 2 ) 3 CMe]-[AuPt 3 (CO) 3 (PCy 3 ) 3 ]}(PF 6 ) 2 have been prepared and characterized. Notably, NMR spectroscopy and high resolution FT-ICR mass spectrometry, including a tandem mass spectrometric analysis, demonstrated the formation of these compounds that was also confirmed by single crystal X-ray diffraction analysis.

Various stoichiometric combinations of PCl 3 with DippNH 2 (Dipp = 2,6-di-isopropylphenyl) have been examined using 31 P NMR spectroscopy. The dehydrochloride coupling reaction is mediated by the moderate steric bulk of the Dipp substituent. Isolation procedures and characterization data are reported for the aminodichlorophosphine ( 1 ), the aminotetrachlorodiphosphine ( 4 ), and the dichlorophosphetidine ( 7 ). The observations offer new appreciation of dehydrochloride coupling products of halophosphines with primary amines.Key words: phosphorus, nitrogen, phosphazanes, phosphetidines, iminophosphine.

Computational data for the tetragallium clusters K2Ga4(C6H3-2,6-Trip2)2 and Na2Ga4Trip6 (Trip=C6H2-2,4,6-i-Pr3) showed that significant Ga–Ga multiple bonding exists only in the latter species. The data for the M2Ga4R2 (M=Li, Na or K; R=H, Me or Ph) models of K2Ga4(C6H3-2,6-Trip2)2, which has a distorted octahedral K2Ga4 core structure incorporating an almost square Ga4 moiety, showed that they have an occupied bonding π-orbital that is delocalized over the four galliums, thereby conferring formal aromatic character by the [4n+2] Hückel rule. However, the Ga–Ga bond order is approximately one, and the hypothetical free [Ga4H2]2− dianion is unstable toward electron dissociation. For the cluster Na2Ga4Trip6, calculations for the model compounds Ga4H6 and [Ga4H6]2−, which involve a central gallium trigonally substituted by three GaH2 units, confirmed that no multiple bonding exists in the neutral species Ga4H6 but that, upon reduction to [Ga4H6]2−, a π-bond is formed which is delocalized over the Ga4 unit. The Ga–Ga distances that were calculated for all model species listed above are longer than those experimentally observed. This was attributed to the absence of alkali metal-aryl interactions in the model species.