C
Cotton Seed
Researcher at Broad Institute
Publications - 42
Citations - 7389
Cotton Seed is an academic researcher from Broad Institute. The author has contributed to research in topics: Genome & Khovanov homology. The author has an hindex of 19, co-authored 40 publications receiving 4013 citations. Previous affiliations of Cotton Seed include Harvard University & Intel.
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Journal ArticleDOI
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski,Laurent C. Francioli,Grace Tiao,Beryl B. Cummings,Jessica Alföldi,Qingbo Wang,Ryan L. Collins,Kristen M. Laricchia,Andrea Ganna,Daniel P. Birnbaum,Laura D. Gauthier,Harrison Brand,Matthew Solomonson,Nicholas A. Watts,Daniel R. Rhodes,Moriel Singer-Berk,Eleina M. England,Eleanor G. Seaby,Jack A. Kosmicki,Raymond K. Walters,Katherine Tashman,Yossi Farjoun,Eric Banks,Timothy Poterba,Arcturus Wang,Cotton Seed,Nicola Whiffin,Jessica X. Chong,Kaitlin E. Samocha,Emma Pierce-Hoffman,Zachary Zappala,Anne H. O’Donnell-Luria,Eric Vallabh Minikel,Ben Weisburd,Monkol Lek,James S. Ware,Christopher Vittal,Irina M. Armean,Louis Bergelson,Kristian Cibulskis,Kristen M. Connolly,Miguel Covarrubias,Stacey Donnelly,Steven Ferriera,Stacey Gabriel,Jeff Gentry,Namrata Gupta,Thibault Jeandet,Diane Kaplan,Christopher Llanwarne,Ruchi Munshi,Sam Novod,Nikelle Petrillo,David Roazen,Valentin Ruano-Rubio,Andrea Saltzman,Molly Schleicher,Jose Soto,Kathleen Tibbetts,Charlotte Tolonen,Gordon Wade,Michael E. Talkowski,Benjamin M. Neale,Mark J. Daly,Daniel G. MacArthur +64 more
TL;DR: A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.
Posted ContentDOI
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
Konrad J. Karczewski,Konrad J. Karczewski,Laurent C. Francioli,Laurent C. Francioli,Grace Tiao,Grace Tiao,Beryl B. Cummings,Beryl B. Cummings,Jessica Alföldi,Jessica Alföldi,Qingbo Wang,Qingbo Wang,Ryan L. Collins,Ryan L. Collins,Kristen M. Laricchia,Kristen M. Laricchia,Andrea Ganna,Andrea Ganna,Andrea Ganna,Daniel P. Birnbaum,Laura D. Gauthier,Harrison Brand,Harrison Brand,Matthew Solomonson,Matthew Solomonson,Nicholas A. Watts,Nicholas A. Watts,Daniel R. Rhodes,Moriel Singer-Berk,Eleanor G. Seaby,Eleanor G. Seaby,Jack A. Kosmicki,Jack A. Kosmicki,Raymond K. Walters,Raymond K. Walters,Katherine Tashman,Katherine Tashman,Yossi Farjoun,Eric Banks,Timothy Poterba,Timothy Poterba,Arcturus Wang,Arcturus Wang,Cotton Seed,Cotton Seed,Nicola Whiffin,Nicola Whiffin,Jessica X. Chong,Kaitlin E. Samocha,Emma Pierce-Hoffman,Zachary Zappala,Zachary Zappala,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Eric Vallabh Minikel,Ben Weisburd,Monkol Lek,Monkol Lek,James S. Ware,James S. Ware,Christopher Vittal,Christopher Vittal,Irina M. Armean,Irina M. Armean,Irina M. Armean,Louis Bergelson,Kristian Cibulskis,Kristen M. Connolly,Miguel Covarrubias,Stacey Donnelly,Steven Ferriera,Stacey Gabriel,Jeff Gentry,Namrata Gupta,Thibault Jeandet,Diane Kaplan,Christopher Llanwarne,Ruchi Munshi,Sam Novod,Nikelle Petrillo,David Roazen,Valentin Ruano-Rubio,Andrea Saltzman,Molly Schleicher,Jose Soto,Kathleen Tibbetts,Charlotte Tolonen,Gordon Wade,Michael E. Talkowski,Michael E. Talkowski,Benjamin M. Neale,Benjamin M. Neale,Mark J. Daly,Daniel G. MacArthur,Daniel G. MacArthur +95 more
TL;DR: Using an improved human mutation rate model, human protein-coding genes are classified along a spectrum representing tolerance to inactivation, validate this classification using data from model organisms and engineered human cells, and show that it can be used to improve gene discovery power for both common and rare diseases.
Journal ArticleDOI
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Pradeep Natarajan,Pradeep Natarajan,Gina M. Peloso,Seyedeh M. Zekavat,Seyedeh M. Zekavat,May E. Montasser,Andrea Ganna,Andrea Ganna,Mark Chaffin,Amit Khera,Amit Khera,Wei Zhou,Jonathan M. Bloom,Jonathan M. Bloom,Jesse M. Engreitz,Jesse M. Engreitz,Jason Ernst,Jeffrey R. O'Connell,Sanni Ruotsalainen,Maris Alver,Ani Manichaikul,W. Craig Johnson,James A. Perry,Timothy Poterba,Timothy Poterba,Cotton Seed,Cotton Seed,Ida Surakka,Tõnu Esko,Samuli Ripatti,Veikko Salomaa,Adolfo Correa,Ramachandran S. Vasan,Manolis Kellis,Manolis Kellis,Benjamin M. Neale,Eric S. Lander,Gonçalo R. Abecasis,Braxton D. Mitchell,Stephen S. Rich,James G. Wilson,L. Adrienne Cupples,Jerome I. Rotter,Cristen J. Willer,Sekar Kathiresan,Sekar Kathiresan +45 more
TL;DR: Large-scale deep-coverage whole-genome sequencing is now feasible and offers potential advantages for locus discovery and the incremental value of WGS for discovery is limited but WGS permits simultaneous assessment of monogenic and polygenic models to severe hypercholesterolemia.
Journal ArticleDOI
Transcript expression-aware annotation improves rare variant interpretation
Beryl B. Cummings,Beryl B. Cummings,Konrad J. Karczewski,Konrad J. Karczewski,Jack A. Kosmicki,Jack A. Kosmicki,Eleanor G. Seaby,Eleanor G. Seaby,Nicholas A. Watts,Nicholas A. Watts,Moriel Singer-Berk,Jonathan M. Mudge,Juha Karjalainen,Juha Karjalainen,F. Kyle Satterstrom,F. Kyle Satterstrom,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Timothy Poterba,Timothy Poterba,Cotton Seed,Cotton Seed,Matthew Solomonson,Matthew Solomonson,Jessica Alföldi,Jessica Alföldi,Genome Aggregation Database Production Team,Genome Aggregation Database Production Team,Mark J. Daly,Mark J. Daly,Daniel G. MacArthur +31 more
TL;DR: A novel variant annotation metric that quantifies the level of expression of genetic variants across tissues is validated in the Genome Aggregation Database (gnomAD) and is shown to improve rare variant interpretation.
Journal ArticleDOI
Delivering genes across the blood-brain barrier: LY6A, a novel cellular receptor for AAV-PHP.B capsids.
Qin Huang,Ken Y. Chan,Isabelle G. Tobey,Yujia Alina Chan,Tim Poterba,Christine L. Boutros,Alejandro B. Balazs,Richard Daneman,Jonathan M. Bloom,Cotton Seed,Benjamin E. Deverman +10 more
TL;DR: It is demonstrated that this newly discovered mode of AAV binding and transduction can occur independently of other known AAV receptors, and inform ongoing efforts to develop next-generation AAV vehicles for human CNS gene therapy.