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UnknownTime trajectories in the transcriptomic response to exercise - a meta-analysis.
Exercise training prevents multiple diseases, yet the molecular mechanisms that drive exercise adaptation are incompletely understood. To address this, we create a computational framework comprising data from skeletal muscle or blood from 43 studies, including 739 individuals before and after exerci...
S-EPMC8190306 | biostudies-literature
UnknownBenchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.

Background

Benchmarking the performance of complex analytical pipelines is an essential part of developing Lab Developed Tests (LDT). Reference samples and benchmark calls published by Genome in a Bottle (GIAB) consortium have enabled the evaluation of analytical methods. The performance of ...
S-EPMC7903625 | biostudies-literature
UnknownClinical assessment incorporating a personal genome.

Background

The cost of genomic information has fallen steeply, but the clinical translation of genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a complete human genome in a clinical context.

Methods

We assessed a patient with a family history of ...
S-EPMC2937184 | biostudies-literature
UnknownEstablishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.

Background

As next generation sequencing for the genetic diagnosis of cardiovascular disorders becomes more widely used, establishing causality for putative disease causing variants becomes increasingly relevant. Diseases of the cardiac sarcomere provide a particular challenge in this regard...
S-EPMC4620603 | biostudies-literature
UnknownMedical implications of technical accuracy in genome sequencing.

Background

As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for sequencing methods and analysis pipelines to be technically accurate. The Genome in a Bottle Consortium has recently publi...
S-EPMC4774017 | biostudies-literature
UnknownSystems Genomics Identifies a Key Role for Hypocretin/Orexin Receptor-2 in Human Heart Failure.

Background

The genetic determinants of heart failure (HF) and response to medical therapy remain unknown. We hypothesized that identifying genetic variants of HF that associate with response to medical therapy would elucidate the genetic basis of cardiac function.

Objectives

This stud...
S-EPMC8991813 | biostudies-literature
UnknownMolecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing.

Background

The advent of clinical next generation sequencing is rapidly changing the landscape of rare disease medicine. Molecular diagnosis of long QT syndrome (LQTS) can affect clinical management, including risk stratification and selection of pharmacotherapy on the basis of the type of i...
S-EPMC4379486 | biostudies-literature
UnknownAccelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.
Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the time required for sequencing and analysis has been a barrier to its use in acutely ill patients. In the present study, we develop an approach for ultra-rapid nanopore WGS that combines an optimized sample prepara...
S-EPMC9287171 | biostudies-literature
UnknownMultidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
Myosin motors are the fundamental force-generating elements of muscle contraction. Variation in the human β-cardiac myosin heavy chain gene (MYH7) can lead to hypertrophic cardiomyopathy (HCM), a heritable disease characterized by cardiac hypertrophy, heart failure, and sudden cardiac death. How spe...
S-EPMC4914177 | biostudies-literature
UnknownEarly somatic mosaicism is a rare cause of long-QT syndrome.
Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages after fertilization, is increasingly recognized to play a causal role in a variety of human diseases. We investigated the case of life-threatening arrhythmia in a 10-day-old infant with long QT syndrome (LQTS). R...
S-EPMC5068256 | biostudies-literature
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