User profiles for D. P. Birnbaum
Daniel P. BirnbaumPhD student, Harvard University Verified email at g.harvard.edu Cited by 19460 |
[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
…, RL Collins, KM Laricchia, A Ganna, DP Birnbaum… - 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 …
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
…, RL Collins, KM Laricchia, A Ganna, DP Birnbaum… - 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 …
about the phenotypic consequences of gene disruption: genes critical for an organism’s …
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome
The clinical interpretation of genetic variants has come to rely heavily on reference population
databases such as the Exome Aggregation Consortium (ExAC) database. Pathogenic …
databases such as the Exome Aggregation Consortium (ExAC) database. Pathogenic …
[HTML][HTML] Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
…, RL Collins, KM Laricchia, A Ganna, DP Birnbaum… - 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 & …
Database Consortium list. They are associated with the affiliation:‘Department of Psychiatry & …
[HTML][HTML] Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
…, RL Collins, KM Laricchia, A Ganna, DP Birnbaum… - 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 …
Hybrid living capsules autonomously produced by engineered bacteria
Bacterial cellulose (BC) has excellent material properties and can be produced sustainably
through simple bacterial culture, but BC‐producing bacteria lack the extensive genetic …
through simple bacterial culture, but BC‐producing bacteria lack the extensive genetic …
Congo Red Fluorescence for Rapid In Situ Characterization of Synthetic Curli Systems
Curli are amyloid proteins that are assembled into extracellular polymeric fibers by bacteria
during biofilm formation. The beta-sheet-rich protein CsgA, the primary structural component …
during biofilm formation. The beta-sheet-rich protein CsgA, the primary structural component …
Machine-learning classification suggests that many alphaproteobacterial prophages may instead be gene transfer agents
R Kogay, TB Neely, DP Birnbaum… - Genome Biology and …, 2019 - academic.oup.com
Many of the sequenced bacterial and archaeal genomes encode regions of viral provenance.
Yet, not all of these regions encode bona fide viruses. Gene transfer agents (GTAs) are …
Yet, not all of these regions encode bona fide viruses. Gene transfer agents (GTAs) are …
Simple affinity-based method for concentrating viruses from wastewater using engineered curli fibers
Wastewater surveillance is a proven method for tracking community spread and prevalence
of some infectious viral diseases. A primary concentration step is often used to enrich viral …
of some infectious viral diseases. A primary concentration step is often used to enrich viral …