OBJECTIVE: To determine the incidence and describe ocular abnormalities in a cross-section of the population of Rocky Mountain Horses. Design: Prospective study. Animals: Five-hundred and fourteen Rocky Mountain Horses. Procedure: Ophthalmic examinations were performed using a slit-lamp biomicroscope and an indirect ophthalmoscope. Intraocular pressures were measured by applanation tonometry. Eyes from six horses were obtained for histologic examination. RESULTS: Cysts of the posterior iris, ciliary body, and peripheral retina were detected most frequently (249 horses), and were always located temporally. Curvilinear streaks of retinal pigmented epithelium extending from the peripheral temporal retina marked the boundary of previous retinal detachment in 189 horses. Retinal dysplasia was detected in 125 horses. Multiple ocular anomalies were evident in 71 horses and were always bilateral and symmetrical. Affected eyes had a large, clear cornea that protruded excessively and had an apparent short radius of curvature, a deep anterior chamber, miotic and dyscoric pupil, and iris hypoplasia. Pupillary light responses were decreased or absent and pupils failed to dilate after repeated instillation of mydriatic drugs in horses with multiple ocular anomalies. Less frequently encountered abnormalities included peripheral iridocorneal adhesions and goniosynechiae. Congenital cataract was always present in eyes with multiple abnormalities. Intraocular pressures did not differ among horses with normal eyes and horses with multiple ocular abnormalities. Histologic examination of eyes corroborated the clinical appearance.

The aetiology of blight of chickpea in South Australia was studied following sporadic disease outbreaks over several years that had been tentatively identified as Phoma blight. Nine fungal isolates from diseased chickpeas were tested for pathogenicity in the glasshouse, of which two caused symptoms resembling those of Ascochyta blight. The two aggressive isolates were identified as Ascochyta rabiei based on morphological characteristics of cultures and RAPD analysis. This was further confirmed by successful mating to international standard isolates, which showed that the two Australian isolates were MAT1‐1. These isolates are accessioned as DAR 71767 and DAR 71768, New South Wales Agriculture, Australia. This is the first time that A. rabiei has been positively identified in commercial chickpeas in the southern hemisphere. The pathogen was found (in 1992) in only one of 59 seed samples harvested throughout Australia between 1992 and 1996 and tested using International Seed Testing Association methods. The teleomorph has not been found in Australia and results to date suggest that only one mating type is present. This suggests that quarantine restrictions on imported chickpea seed should be retained to prevent the introduction of the opposite mating type.

A survey for mycotoxins and toxigenic fungi in maize (Zea mays) grown during 1983 in Far North Queensland is reported. Zearalenone was detected in 148 of the 174 samples examined. Low concentrations of aflatoxins were detected in three of the samples. Ochratoxin A, sterigmatocystin, T-2 toxin and deoxynivalenol were not detected. The 1983 season was unusual in that plants were stressed from low rainfall in the early stage of growth. Insect damage, mainly by ear worms (Heliothis sp.), was severe. Despite this, there was no significant increase in zearalenone concentrations compared to a previous survey in 1982, when insect damage was minimal. Ten samples were used for fungal isolations. Fusarium moniliforme was the most frequently isolated fungus, and its isolation frequency increased in visibly damaged kernels. F. graminearum was most frequently isolated from kernels with a purple discoloration. The correlation between the isolation frequency of F. graminearum and zearalenone concentrations indicated that F. graminearum produced most of the zearalenone in the samples. Other fungi isolated included F. subglutinans, F. oxysporum, Aspergillus jlavus, A. niger, Penicillium sp., Trichoderma sp., Nigrospora sp., Curvularia sp., Drechslera sp., Acremonium zeae and Rhizoctonia sp.

Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds promise to greatly simplify and speed interpretation by comprehensively evaluating genetic variants for pathogenicity in the context of the growing knowledge of genetic disease. We assess the diagnostic performance of GEM, a new, AI-based, clinical decision support tool, compared with expert manual interpretation. We benchmarked GEM in a retrospective cohort of 119 probands, mostly NICU infants, diagnosed with rare genetic diseases, who received whole genome sequencing (WGS) at Rady Children's Hospital. We also performed a replication study in a separate cohort of 60 cases diagnosed at five additional academic medical centers. For comparison, we also analyzed these cases with commonly used variant prioritization tools (Phevor, Exomiser, and VAAST). Included in the comparisons were WGS and whole exome sequencing (WES) as trios, duos, and singletons. Variants underpinning diagnoses spanned diverse modes of inheritance and types, including structural variants (SVs). Patient phenotypes were extracted either manually or by automated clinical natural language processing (CNLP) from clinical notes. Finally, 14 previously unsolved cases were re-analyzed. GEM ranked >90% of causal genes among the top or second candidate, using manually curated or CNLP derived phenotypes, and prioritized a median of 3 genes for review per case. Ranking of trios and duos was unchanged when analyzed as singletons. In 17 of 20 cases with diagnostic SVs, GEM identified the causal SVs as the top or second candidate irrespective of whether SV calls where provided or inferred ab initio by GEM when absent. Analysis of 14 previously unsolved cases provided novel findings in one, candidates ultimately not advanced in 3, and no new findings in 10, demonstrating the utility of GEM for reanalysis. GEM enables automated diagnostic interpretation of WES and WGS for all types of variants, including SVs, nominating a very short list of candidate genes and disorders for final review and reporting. In combination with deep phenotyping by CNLP, GEM enables substantial automation of genetic disease diagnosis, potentially decreasing the cost and speeding case review.

Since 1982, stem and foliage scab caused by Sphaceloma batatas has occurred in crops of sweet potatoes cv. 'Porto Rico' on the Atherton Tableland in North Queensland. This is the first report of the occurrence of this disease in Australia. We developed a natural substrate agar suitable for sporulation of S. batatas and demonstrated that a suspension of conidia was pathogenic, producing lesions on the stem, petioles and leaf veins of sweet potatoes. Nine fungicides were tested for control of stem and foliage scab in a field experiment. Benomyl (400 g a.i./ ha), chlorothalonil (1300 g a.i./ha), captafol (1520 g a.i./ha), fentin hydroxide (300 g a.i./ha), copper oxychloride (1500 g a.i./ha) and mancozeb (1 500 g a.i./ha) reduced the disease at the earliest assessment, 55 days after planting (P= 0.05). However, at 82 days after planting, copper oxychloride and mancozeb were no longer controlling stem and foliage scab, and, at the third assessment (after 111 days) only benomyl and chlorothalonil reduced the disease (P = 0.05). A field rating after 195 days confirmed that benomyl provided significantly better disease control (P= 0.05) than any other treatment throughout the season. There was a negative correlation between yield and disease levels at 55 and 82 days (r= -0.39 and -0.36, P= 0.05), but not at 111 and 195 days (r= -0.23 and -0.10. n.s.). Twenty sweet potato cultivars were evaluated for disease resistance. Of the major commercial cultivars grown in Queensland, Centennial '83 was highly resistant, Beerwah Gold was moderately resistant, while Red Abundance, NC-3, Lo 323 and Porto Rico were susceptible to stem and foliage scab.