Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a rare-disease cohort of 98 samples from 41 families, using nanopore sequencing, achieving per sample ∼36× average coverage and 32-kb read N50 from a single flow cell.

Safety of oil from (strain ATCC-20889) for use in infant and follow-on formula as a novel food pursuant to Regulation (EU) 2015/2283.

Following a request from the European Commission, the EFSA Panel on Nutrition, Novel Foods and Food Allergens (NDA) was asked to deliver an opinion on the safety of an oil derived from the microalga sp. (strain ATCC-20889) as a novel food (NF) pursuant to Regulation (EU) 2015/2283. The NF is a mixture of triglycerides in which docosahexaenoic acid (DHA) represents 40%-43% of fatty acids.

Nutritional safety and suitability of a specific protein hydrolysate manufactured by Fonterra Co-operative Group Ltd derived from a whey protein concentrate and used in infant formula and follow-on formula.

The European Commission asked EFSA to deliver an opinion on the nutritional safety and suitability for use in infant and follow-on formula of a specific protein hydrolysate from whey protein concentrate manufactured by Fonterra Co-operative Group Ltd. Fonterra Co-operative Group Ltd. submitted a dossier to the European Commission to request an amendment of Regulation (EU) 2016/127 with respect to the protein sources that may be used in the manufacture of infant and/or follow-on formula.

Safety of frozen and dried forms of whole yellow mealworm ( larva) as a novel food pursuant to Regulation (EU) 2015/2283.

Following a request from the European Commission, the EFSA Panel on Nutrition, Novel Foods and Food Allergens (NDA) was asked to deliver an opinion on the safety of frozen, dried and powder forms of whole yellow mealworm ( larva) as a novel food (NF) pursuant to Regulation (EU) 2015/2283. The term yellow mealworm refers to the larval form of the insect species . The NF consists of the frozen and dried forms of the whole yellow mealworm.

Safety of mineral salt containing potassium and magnesium as a novel food pursuant to Regulation (EU) 2015/2283.

Following a request from the European Commission, the EFSA Panel on Nutrition, Novel Foods and Food Allergens (NDA) was asked to deliver an opinion on a mineral salt, containing potassium and magnesium, as a novel food (NF) pursuant to Regulation (EU) 2015/2283. The NF is a mineral salt that consists mainly of magnesium potassium trichloride hexahydrate. The information provided on the composition is sufficient for characterising the NF and does not raise safety concerns.