Wellcome Sanger Institute

Multiancestry genome-wide association and multiomics analyses elucidate spatiocellular features of multiple sclerosis genetics

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system characterized by demyelination disseminated in space and time. Here we performed a genome-wide association study (GWAS) using 688 MS cases and 205,199 controls from the Japanese population and...

A reusable model of pangenome selection informs optimal surveillance strategies over vaccine introductions

Abstract Background The human pathogen Streptococcus pneumoniae is a major cause of disease, including pneumonia and meningitis. The introduction of Pneumococcal Conjugate Vaccines (PCVs) initially reduced the burden of disease through a reduction of colonisation by vaccine-targe...

A step-wise, deterministic and fatal mouse model of myeloid neoplasm with spontaneous acquisition of patient-relevant RTK–RAS mutations

Abstract Leukaemia arises through the stepwise transformation of healthy haematopoietic cells, yet the asymptomatic premalignant phase and its progression to overt disease remain poorly understood. To model this process, we engineered a patient-derived CEBPA mutation into Hoxb8-F...

Rapidly evolving aphid gall effector proteins exhibit saposin-like folds

Abstract Many insects manipulate plants by injecting effector proteins. In one extreme example of this molecular “hijacking”, Hormaphis cornu aphids inject bicycle proteins into Hamamelis virginiana , contributing to the development of novel organs called galls. Bicycle proteins...

The genome sequence of Dermanura phaeotis (Chiroptera, Phyllostomidae, Stenodermatinae; Miller, 1902)

We present a genome assembly from an individual male Dermanura phaeotis (Chordata; Mammalia; Chiroptera; Phyllostomidae). The genome sequence is 2.2 Gb in span. The majority of the assembly is scaffolded into 30 chromosomal pseudomolecules, with the X and Y sex chromosomes assemb...

Charting Endocrine Progenitors Across Species and Organs

ABSTRACT Hormone‐producing cells in the pancreas and intestine regulate whole‐body metabolism and are dysregulated in obesity and diabetes. A deeper understanding of endocrine lineage formation (endocrinogenesis) in these organs is essential to elucidate the healthy state and dis...

P1.037. Early-Onset Oesophagogastric Adenocarcinoma: Clinicopathological Characteristics and Outcomes From a Ten-Year Tertiary Centre Experience

Abstract Topic Esophageal Cancer: Molecular Biology/Pathology Background The incidence of early-onset oesophago-gastric adenocarcinoma (EO-OGC) is rising worldwide, yet its clinicopathological characteristics and oncological outcomes remain incompletely defined. This study aimed...

P1.036. Early-Onset Gastric Cancer (EOGC): A Meta-Analysis of Risk Factors, Clinicopathological Features, and Survival Outcomes

Abstract Topic Esophageal Cancer: Other Background Early onset gastric cancer (EOGC), defined as diagnosis before 55 years, represents a growing global health challenge. Although traditionally rare, its incidence is rising and now constitutes the second most common early onset ga...

P1.038. Minimising the Systemic Effects of an Oesophageal Leak Following High Risk Myotomy Repair Using Prophylactic Endoluminal Vacuum Therapy (EVT) – Time for a Change?

Abstract Topic Benign Disease: Iatrogenic Esophageal Disease, Perforation and Postsurgical Complications Case Submission An 80 year old frail lady (ASA 2, BMI 22) was referred with progressive dysphagia, regurgitation, and unintentional weight loss. Endoscopy demonstrated a dilat...

The chromosomal genome sequence of Loripinus fragilis (R.A.Philippi, 1836) (Lucinida: Lucinidae) and its associated microbial metagenome sequences

<ns5:p> We present a genome assembly from an individual <ns5:italic>Loripinus fragilis</ns5:italic> (Mollusca; Bivalvia; Lucinida; Lucinidae). The genome sequence has a total length of 1 987.46 megabases. Most of the assembly (92.76%) is scaffolded into 18 chromosomal pseudomolec...

The chromosomal genome sequence of a peltospirid gastropod, Rhynchopelta concentrica McLean, 1989 (Neomphalida: Peltospiridae) and its associated microbial metagenome sequences

<ns5:p> We present a genome assembly from a specimen of <ns5:italic>Rhynchopelta concentrica</ns5:italic> (peltospirid gastropod; Mollusca; Gastropoda; Neomphalida; Peltospiridae). The genome sequence has a total length of 716.07 megabases. Most of the assembly (92.08%) is scaffo...

Characterising recent antimalarial resistance in West Africa: Insights from amplicon sequencing of 17,384 Plasmodium falciparum infection samples

<ns5:p> Background <ns5:italic>Plasmodium falciparum</ns5:italic> ( <ns5:italic>P. falciparum</ns5:italic> ) infection remains a significant public health threat in West Africa, where chemoprevention and first-line therapies are key interventions against malaria. However, the dev...

The chromosomal genome sequence of the spiny sea fan, Muricea muricata (Pallas, 1766) (Malacalcyonacea: Plexauridae) and its associated microbial metagenome sequences

<ns5:p> We present a genome assembly from a <ns5:italic>Muricea muricata</ns5:italic> specimen (spiny sea fan; Cnidaria; Anthozoa; Malacalcyonacea; Plexauridae). The genome sequence has a total length of 453.40 megabases. Most of the assembly (98.45%) is scaffolded into 16 chromo...

A compendium of next-generation patient-derived models for diverse cancers

Abstract The development of new therapeutics and the validation of pathogenetic cancer mechanisms require representative laboratory models 1,2 . However, existing collections represent only a fraction of the diversity observed in human cancer 2–4 . Recent technologies have enable...