A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Strategic vision for improving human health at The Forefront of Genomics
ED Green, C Gunter, LG Biesecker, V Di Francesco… - Nature, 2020 - nature.com
Starting with the launch of the Human Genome Project three decades ago, and continuing
after its completion in 2003, genomics has progressively come to have a central and …
after its completion in 2003, genomics has progressively come to have a central and …
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …
way proteins are made. Taking protein structure into account has therefore provided great …
An Atlas of Variant Effects to understand the genome at nucleotide resolution
Sequencing has revealed hundreds of millions of human genetic variants, and continued
efforts will only add to this variant avalanche. Insufficient information exists to interpret the …
efforts will only add to this variant avalanche. Insufficient information exists to interpret the …
CADD: predicting the deleteriousness of variants throughout the human genome
Abstract Combined Annotation-Dependent Depletion (CADD) is a widely used measure of
variant deleteriousness that can effectively prioritize causal variants in genetic analyses …
variant deleteriousness that can effectively prioritize causal variants in genetic analyses …
Accurate classification of BRCA1 variants with saturation genome editing
Variants of uncertain significance fundamentally limit the clinical utility of genetic information.
The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which …
The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which …
Saturation variant interpretation using CRISPR prime editing
High-throughput functional characterization of genetic variants in their endogenous locus
has so far been possible only with methods that rely on homology-directed repair, which are …
has so far been possible only with methods that rely on homology-directed repair, which are …
[HTML][HTML] Massively parallel assessment of human variants with base editor screens
Understanding the functional consequences of single-nucleotide variants is critical to
uncovering the genetic underpinnings of diseases, but technologies to characterize variants …
uncovering the genetic underpinnings of diseases, but technologies to characterize variants …
Present Status of Brugada Syndrome: JACC State-of-the-Art Review
The Brugada syndrome is an inherited disorder associated with risk of ventricular fibrillation
and sudden cardiac death in a structurally normal heart. Diagnosis is based on a …
and sudden cardiac death in a structurally normal heart. Diagnosis is based on a …
The expanding landscape of alternative splicing variation in human populations
Alternative splicing is a tightly regulated biological process by which the number of gene
products for any given gene can be greatly expanded. Genomic variants in splicing …
products for any given gene can be greatly expanded. Genomic variants in splicing …