Digital twins: from personalised medicine to precision public health
MN Kamel Boulos, P Zhang - Journal of personalized medicine, 2021 - mdpi.com
A digital twin is a virtual model of a physical entity, with dynamic, bi-directional links between
the physical entity and its corresponding twin in the digital domain. Digital twins are …
the physical entity and its corresponding twin in the digital domain. Digital twins are …
Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …
genome sequencing (WGS) data consented for public distribution without access or use …
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
H Stranneheim, K Lagerstedt-Robinson… - Genome Medicine, 2021 - Springer
Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …
The fecal metabolome as a functional readout of the gut microbiome
The human gut microbiome plays a key role in human health 1, but 16S characterization
lacks quantitative functional annotation 2. The fecal metabolome provides a functional …
lacks quantitative functional annotation 2. The fecal metabolome provides a functional …
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation …
PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …
collection of published germline mutations in nuclear genes that underlie, or are closely …
Paediatric genomics: diagnosing rare disease in children
CF Wright, DR FitzPatrick, HV Firth - Nature Reviews Genetics, 2018 - nature.com
The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …
cause for their condition. However, making a molecular diagnosis with current technologies …
Pan-genomics in the human genome era
RM Sherman, SL Salzberg - Nature Reviews Genetics, 2020 - nature.com
Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …
'reference'genome for each species, which is used as the basis for a wide range of genetic …
Artificial intelligence in clinical and genomic diagnostics
R Dias, A Torkamani - Genome medicine, 2019 - Springer
Artificial intelligence (AI) is the development of computer systems that are able to perform
tasks that normally require human intelligence. Advances in AI software and hardware …
tasks that normally require human intelligence. Advances in AI software and hardware …