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Ben Weisburd
Broad Institute
15Publications
7H-index
4,950Citations
Publications 15
Newest
#1Samantha J. Bryen (USYD: University of Sydney)
#2Lisa Ewans (USYD: University of Sydney)H-Index: 5
Last.Sandra T. Cooper (USYD: University of Sydney)H-Index: 27
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#1Juanjiangmeng Du (University of Cologne)H-Index: 2
#2Monica Sudarsanam (University of Cologne)
Last.Dennis LalH-Index: 15
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#1Saveli Goldberg (Harvard University)H-Index: 30
#2Gabriel Katz (MIT: Massachusetts Institute of Technology)H-Index: 4
Last.Anatoly Temkin (BU: Boston University)H-Index: 1
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We propose an approach to decision support systems (DSS) that starts with the user first making their own unassisted decision αU and providing this as an input to the algorithm. Then, if the algorithm disagrees with the user’s initial decision, it iteratively works with the user to converge on a common decision or at least make the user reconsider input values that are inconsistent with αU. We provide a detailed description of this approach along with examples, and then discuss potential benefit...
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#1Konrad J. Karczewski (Harvard University)H-Index: 35
#2Laurent C. Francioli (Harvard University)H-Index: 15
Last.Daniel G. MacArthur (Harvard University)H-Index: 57
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Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes critical for an organism9s function will be depleted for such variants in natural populations, while non-essential genes will tolerate their accumulation. However, predicted loss-of-function (pLoF) variants are enriched for annotation errors, and tend to be found at extremely low frequencies, so their analysis requires careful variant annotation a...
137 CitationsSource
Jan 1, 2019 in AAAI (National Conference on Artificial Intelligence)
#1Saveli Goldberg (Harvard University)H-Index: 30
#2Boris GalitskyH-Index: 2
Last.Ben Weisburd (Broad Institute)H-Index: 7
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#1Manuel A. Rivas (Stanford University)H-Index: 29
#2Brandon E. Avila (Broad Institute)H-Index: 2
Last.M. J. Daly (Broad Institute)H-Index: 178
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As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd.broadinstitute.org, also available in gnomAD at http://gnomad.broadinstitute.org). We estimate that 34% of protein-coding alleles present in the Ashkenazi Jewish population at frequ...
18 CitationsSource
#1Xiaolei Zhang (NIH: National Institutes of Health)H-Index: 4
#2Eric Minikel (Broad Institute)H-Index: 12
Last.Ben Weisburd (Broad Institute)H-Index: 7
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This software repository provides a pipeline for converting raw ClinVar data files into analysis-friendly tab-delimited tables, and also provides these tables for the most recent ClinVar release. Separate tables are generated for genome builds GRCh37 and GRCh38 as well as for mono-allelic variants and complex multi-allelic variants. Additionally, the tables are augmented with allele frequencies from the ExAC and gnomAD datasets as these are often consulted when analyzing ClinVar variants. Overal...
13 CitationsSource
#1Colleen M. Carlston (ARUP Laboratories)H-Index: 3
#2Anne H. O’Donnell-Luria (Broad Institute)H-Index: 13
Last.Rong Mao (ARUP Laboratories)H-Index: 25
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The clinical interpretation of genetic variants has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC) database. Pathogenic variants in genes associated with severe, pediatric-onset, highly penetrant, autosomal dominant conditions are assumed to be absent or rare in these databases. Exome sequencing of a six-year-old female patient with seizures, developmental delay, dysmorphic features and failure to thrive identified an ASXL1 variant previous...
17 CitationsSource
#1Konrad J. Karczewski (Broad Institute)H-Index: 35
#2Ben Weisburd (Broad Institute)H-Index: 7
Last.Daniel G. MacArthur (Broad Institute)H-Index: 57
view all 13 authors...
134 CitationsSource
#1Colleen M. Carlston (UofU: University of Utah)H-Index: 3
#2Anne H. O’Donnell-Luria (Broad Institute)H-Index: 13
Last.Rong Mao (UofU: University of Utah)H-Index: 25
view all 10 authors...
The interpretation of genetic variants identified during clinical sequencing has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC). Genuinely pathogenic variants, particularly in genes associated with severe autosomal dominant conditions, are assumed to be absent or extremely rare in these databases. Clinical exome sequencing of a six-year-old female patient with seizures, global developmental delay, dysmorphic features and failure to thrive i...
1 CitationsSource
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