Designing neoantigen cancer vaccines, trials, and outcomes

N Biswas, S Chakrabarti, V Padul, LD Jones… - Frontiers in …, 2023‏ - frontiersin.org
Neoantigen vaccines are based on epitopes of antigenic parts of mutant proteins expressed
in cancer cells. These highly immunogenic antigens may trigger the immune system to …

Genoty**‐by‐sequencing approaches to characterize crop genomes: choosing the right tool for the right application

A Scheben, J Batley, D Edwards - Plant biotechnology journal, 2017‏ - Wiley Online Library
In the last decade, the revolution in sequencing technologies has deeply impacted crop
genoty** practice. New methods allowing rapid, high‐throughput genoty** of entire …

Proteingym: Large-scale benchmarks for protein fitness prediction and design

P Notin, A Kollasch, D Ritter… - Advances in …, 2023‏ - proceedings.neurips.cc
Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins to address our most pressing …

Exome sequencing and analysis of 454,787 UK Biobank participants

JD Backman, AH Li, A Marcketta, D Sun, J Mbatchou… - Nature, 2021‏ - nature.com
A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …

Genomic architecture of autism from comprehensive whole-genome sequence annotation

B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022‏ - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

P Akbari, A Gilani, O Sosina, JA Kosmicki, L Khrimian… - Science, 2021‏ - science.org
INTRODUCTION Obesity accounts for a substantial and growing burden of disease globally.
Body adiposity is highly heritable, and human genetic studies can lead to biological and …

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

R Asselta, EM Paraboschi, A Mantovani… - Aging (albany …, 2020‏ - pmc.ncbi.nlm.nih.gov
As the outbreak of coronavirus disease 2019 (COVID-19) progresses, prognostic markers for
early identification of high-risk individuals are an urgent medical need. Italy has one of the …

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

X Yin, LS Chan, D Bose, AU Jackson… - Nature …, 2022‏ - nature.com
Few studies have explored the impact of rare variants (minor allele frequency< 1%) on
highly heritable plasma metabolites identified in metabolomic screens. The Finnish …

dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

X Liu, C Li, C Mou, Y Dong, Y Tu - Genome medicine, 2020‏ - Springer
Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …

Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas

TA Knijnenburg, L Wang, MT Zimmermann… - Cell reports, 2018‏ - cell.com
DNA damage repair (DDR) pathways modulate cancer risk, progression, and therapeutic
response. We systematically analyzed somatic alterations to provide a comprehensive view …