User profiles for Emma Pierce-Hoffman
Emma Pierce-HoffmanAssociate 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
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 …
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
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 …
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
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 …
about the phenotypic consequences of gene disruption: genes critical for an organism’s …
Regional missense constraint improves variant deleteriousness prediction
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 …
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
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 …
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
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 & …
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
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 …
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 …
(gnomAD), are generally expected to be depleted for variation with severe effects on …
Genome‐wide analysis of structural variants in Parkinson disease
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 …
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 Pierce‐Hoffman… - 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‐…
amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC‐…