Genomic newborn screening for rare diseases
Z Stark, RH Scott - Nature Reviews Genetics, 2023 - nature.com
Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …
From target discovery to clinical drug development with human genetics
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …
decades were anticipated to result in many innovative therapies. Here we investigate the …
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland
CF Wright, P Campbell, RY Eberhardt… - … England Journal of …, 2023 - Mass Medical Soc
Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
Abstract The International Mouse Phenotyping Consortium (IMPC; https://www.
mousephenotype. org/) web portal makes available curated, integrated and analysed …
mousephenotype. org/) web portal makes available curated, integrated and analysed …
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
A Sosinsky, J Ambrose, W Cross, C Turnbull… - Nature Medicine, 2024 - nature.com
Abstract The Cancer Programme of the 100,000 Genomes Project was an initiative to
provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities …
provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities …
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes
Background Stratification of patients with post-acute sequelae of SARS-CoV-2 infection
(PASC, or long COVID) would allow precision clinical management strategies. However …
(PASC, or long COVID) would allow precision clinical management strategies. However …
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023 - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …
correlations, including facial recognition tools. However, no unified framework that …
CADD v1. 7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
M Schubach, T Maass, L Nazaretyan… - Nucleic acids …, 2024 - academic.oup.com
Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …
assessment of clinical findings and is employed to prioritize variants in diverse genetic …
A framework for individualized splice-switching oligonucleotide therapy
Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of
individuals with genetic diseases, but the systematic identification of such individuals …
individuals with genetic diseases, but the systematic identification of such individuals …
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
Long-read sequencing technologies substantially overcome the limitations of short-reads
but have not been considered as a feasible replacement for population-scale projects, being …
but have not been considered as a feasible replacement for population-scale projects, being …