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Subhash Kerre




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Overall, LRs accounted for 7.2% of all pathogenic variants detected across all 28 panel genes (Fig. 2). However, the prevalence of LRs varied by gene. LRs were most prevalent in STK11 (60.7% of all pathogenic variants identified in the gene), MSH2 (27.9%), PMS2 (25.6%), BMPR1A (26.9%), RAD51C (21.1%), and CDKN2A p14ARF (16.7%) (Fig. 2). Of the 2336 individuals found to carry pathogenic LRs, 164 (7.0%) had at least one other germline PV. Among these, 157 individuals had sequence variants, and seven carried an additional LR in a separate, non-contiguous gene.

Nearly all (95.5%) of deletions included here were pathogenic (Table 1). with the remaining 4.5% being classified as VUS (Table 1). Only 4.5% of deletions were classified as VUS (Table 1), including those found in GREM1 and CDK4, where no pathogenic deletions were observed. Deletions represented 86.1% of pathogenic LRs detected and were seen in almost all tested genes (Table 2).

A total of 41 unique pathogenic and VUS partial deletions were detected here, present in 79 individuals. Figure 3 illustrates one partial deletion in BRCA2. NGS initially showed that amplicons covering a sub-region of exon 11 (spanning ~ 1000 bp in size) were present in only one copy (Fig. 3a). This partial deletion was also investigated by targeted microarray-CGH, as directed by the process flow detailed in Fig. 1, and a decreased relative amplitude of probe clusters in this region confirmed the NGS finding (Fig. 3b). MLPA did not detect this LR because the MLPA probe binding sites for this exon did not cover the region deleted in this individual (data not shown). Targeted PCR was employed to characterize precise breakpoints and evaluate the pathogenicity of the partial deletion. The analysis revealed an in-frame deletion of 711 bp within a non-critical region. As a result, this LR was classified as VUS.

Duplications were detected in each of the 26 genes evaluated for LRs; however, pathogenic duplications were identified in only 16 genes (Table 2). Overall, duplications accounted for 11.3% of all detected pathogenic LRs, and 79.1% of all duplications were classified as VUS (Table 1). Five unique partial duplications (pathogenic variants and VUS) were detected in seven individuals. One partial duplication in BRCA2 is depicted in Fig. 4. NGS showed that exons 5–10 were elevated to allele counts of approximately 3, which is consistent with duplication (Fig. 4a). Confirmatory microarray-CGH refined this duplication further and demonstrated that a portion of exon 11 was included in the duplication as well (Fig. 4b). Follow-up targeted PCR established that the duplicated segment occurred in tandem with the native gene, in a head-to-tail orientation (Fig. 4c). Such a configuration is predicted to result in abnormal protein production and/or function, and the variant was classified as DM.


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can ngs detect large deletions?

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Estimated reading time: 7 minutes

Teff (Eragrostis tef) is an indigenous North African staple, but in other countries it is becoming known as the latest super grain. Ancient grains have recently been making a comeback globally. Forgotten grains such as quinoa (Chenopodium quinoa), millet and teff are becoming an essential part of the human diet once again.

Teff has been hailed as the next big super grain by The Guardian and The New York Times, among other major publications, and is valued for its high nutritional value and gluten-free properties. It was also pointed out recently as a significant consumer trend for South Africans to take note of by consumer specialist, Nadia van der Colff, at a recent Standard Bank Agribusiness function held in Pretoria, Gauteng.

Author and professor of biotechnology at the University of South Wales in the United Kingdom, Denis J Murphy, notes in his 2007 book People, Plants, and Genes: The Story of Crops and Humanity that teff was one of the earliest domesticated plants. The grass is believed to have originated in Ethiopia and Eritrea between 4 000 and 1 000 BC. Even today, teff is a staple food in Ethiopia and was grown by an estimated 6,3 million farmers in 2012, covering more than 20% of the country and yielding almost four million tons in 2013.

Read more about food safety here.

In 1996, the United States (US) National Research Council (NRC) characterised teff as having the “potential to improve nutrition, boost food security, foster rural development and support sustainable land care.” Teff production has spread to many western countries, especially for the grain’s nutritional value. Teff is grown in the US, mostly in the states of Idaho and Nevada, with more than 40 000ha being planted for human and animal consumption in 2010.

In Australia, teff produced for human consumption is a relatively new industry and the grass has been grown in experimental quantities since 2014. Even South Africa has joined this movement.

Read more about South African hemp production here.

Although teff is relatively unknown to local consumers, South African producers have been producing teff since 2009. It all started when Charles Wessels, marketing director of Teff Growers South Africa (TGSA), decided to produce teff as feed for his polo horses. In terms of human consumption, the sector has rapidly expanded and now produces teff for a lucrative export market.

TGSA is the company responsible for the production, milling and exportation of teff in South Africa. Local production has reached between 6 000 and 8 000 tons per annum, which is produced on a minimum of 12 000 to 16 000ha. TGSA is currently developing new cultivars to improve its yield on crops planted.

When compared to other locally produced grains, it does not result in a massive yield, but according to grain sourcing manager, Hannes Maartens, they are attempting to not produce more than the market demands every year. In contrast, the March 2017 crop estimate for sorghum, a local indigenous grain, is 153 480 tons and the estimate for white and yellow maize – South Africa’s biggest grain production crop – is estimated to reach 14,324 million tons this year.

The industry relies mostly on contracted farmers. Currently all these farmers are based in the central regions of the country, such as the Free State and surrounds, in particular in Bloemfontein. The dry climate in this region is very conducive to growing teff.

According to Lisa Long, marketing manager at TGSA, the long summer season and adequate rainfall in this area are beneficial. Teff prospers in high altitudes, and this contributes to the successful production of this grain in the province, with the Free State being above sea level.

According to TGSA, teff is a highly efficient crop. Just one pound (0,45kg) of teff is required to sow an entire acre (0,40ha) of land, sprouting in only 36 hours – the shortest time span of any grain – and yielding up to a ton of grain in as little as twelve weeks.

Both white and brown varieties are produced in South Africa. The grain is produced both under irrigation and on dryland. Crop protection is generally used, but according to Long they have also production started organic production as of 2017. This is due to a high demand for organic teff from international markets, especially Europe.

Read more about the signs of nutrient deficiency in plants here.

Teff is harvested three months after being planted. Planting season is from October to December and harvesting takes place from January to March every year. With teff being such a quick and easy crop to produce, it serves as an ideal crop diversification. However, according to Long the industry already has an abundance of farmers contracted to produce teff.

Once harvesting is complete, the teff is processed using cleaning methods to produce a clean, edible grain. The grain is consumed by humans, while the grass is processed into hay bales and used as fodder for animal feed. A portion of the cleaned grain is milled using stone mills and modern machinery to make teff flour, which is a suitable alternative to wheat flour for gluten-free diets. Teff is not yet available to purchase on shop shelves and can mainly be sourced by contacting TGSA.

In South Africa, teff is still relatively unknown among consumers and not usually used for human consumption. Therefore, the majority of produce is exported and amounts to approximately 6 000 tons per year. When it comes to exporting, the question is always whether the market is sustainable. “For us, yes,” says Long. “We have long-standing global clients who buy only from us. We currently export industrial volumes globally.”

TGSA only mills the product into flour, but Maartens says there is potential for grain in popped or milled form for various products related to baking, cereals and sports nutrition. According to a December 2016 article by FoodNavigator, TGSA is also looking into exporting an annual 50 000 tons of forage from the crop as animal feed.

Read more about the oxygen types that damages crops in extreme weather conditions here.


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How to grow teff in south africa?

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  1. To obtain your user ID or reset your password, contact your PLSA or LSA.
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