User profiles for Emma Pierce-Hoffman

Emma Pierce-Hoffman

Associate Computational Biologist at Broad Institute
Verified email at broadinstitute.org
Cited by 18486

[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans

…, K Estrada, F Zhao, J Zou, E Pierce-Hoffman… - Nature, 2016 - nature.com
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

[HTML][HTML] The mutational constraint spectrum quantified from variation in 141,456 humans

…, N Whiffin, JX Chong, KE Samocha, E Pierce-Hoffman… - Nature, 2020 - nature.com
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the function …

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

…, N Whiffin, JX Chong, KE Samocha, E Pierce-Hoffman… - biorxiv, 2019 - biorxiv.org
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism’s …

Regional missense constraint improves variant deleteriousness prediction

…, KJ Karczewski, AH O'Donnell-Luria, E Pierce-Hoffman… - BioRxiv, 2017 - biorxiv.org
Given increasing numbers of patients who are undergoing exome or genome sequencing, it
is critical to establish tools and methods to interpret the impact of genetic variation. While the …

[HTML][HTML] Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Q Wang, E Pierce-Hoffman, BB Cummings… - Nature …, 2020 - nature.com
Multi-nucleotide variants (MNVs), defined as two or more nearby variants existing on the
same haplotype in an individual, are a clinically and biologically important class of genetic …

[HTML][HTML] Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

…, N Whiffin, JX Chong, KE Samocha, E Pierce-Hoffman… - Nature, 2021 - nature.com
In this Article, author Marquis P. Vawter was missing from the Genome Aggregation
Database Consortium list. They are associated with the affiliation:‘Department of Psychiatry & …

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

…, BB Currall, K O'Keefe, E Pierce-Hoffman… - The American Journal of …, 2023 - cell.com
Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic
approach for the assessment of autism spectrum disorder (ASD) and fetal structural …

[HTML][HTML] Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

…, N Whiffin, JX Chong, KE Samocha, E Pierce-Hoffman… - Nature, 2021 - nature.com
Databases of human population genetic variation, such as the Genome Aggregation Database
(gnomAD), are generally expected to be depleted for variation with severe effects on …

Genome‐wide analysis of structural variants in Parkinson disease

…, X Zhao, M Walker, E PierceHoffman… - Annals of …, 2023 - Wiley Online Library
Objective Identification of genetic risk factors for Parkinson disease (PD) has to date been
primarily limited to the study of single nucleotide variants, which only represent a small fraction …

ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

…, N Deconinck, E PierceHoffman… - Annals of …, 2020 - Wiley Online Library
Objective Recently, the ASC‐1 complex has been identified as a mechanistic link between
amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC‐…