N
Nicola Whiffin
Researcher at National Institutes of Health
Publications - 100
Citations - 10600
Nicola Whiffin is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 32, co-authored 81 publications receiving 6241 citations. Previous affiliations of Nicola Whiffin include Broad Institute & Imperial College London.
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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
Using high-resolution variant frequencies to empower clinical genome interpretation
Nicola Whiffin,Nicola Whiffin,Eric Vallabh Minikel,Eric Vallabh Minikel,Roddy Walsh,Roddy Walsh,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Konrad J. Karczewski,Konrad J. Karczewski,Alexander Y Ing,Alexander Y Ing,Paul J.R. Barton,Paul J.R. Barton,Birgit Funke,Birgit Funke,Stuart A. Cook,Daniel G. MacArthur,Daniel G. MacArthur,James S. Ware +19 more
TL;DR: A statistically robust framework for assessing whether a variant is “too common” to be causative for a Mendelian disorder of interest is outlined and precomputed allele frequency cutoffs for all variants in the ExAC dataset are presented.
Journal ArticleDOI
Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trial
Brian P Halliday,Rebecca Wassall,Amrit Lota,Zohya Khalique,John Gregson,Simon Newsome,Robert B. Jackson,Tsveta Rahneva,Rick Wage,Gillian Smith,Lucia Venneri,Upasana Tayal,Dominique Auger,William Midwinter,Nicola Whiffin,Nicola Whiffin,Ronak Rajani,Jason Dungu,Antonis Pantazis,Stuart A. Cook,James S. Ware,James S. Ware,A. John Baksi,Dudley J. Pennell,Stuart D. Rosen,Stuart D. Rosen,Martin R. Cowie,John G.F. Cleland,John G.F. Cleland,Sanjay K Prasad +29 more
TL;DR: Many patients deemed to have recovered from dilated cardiomyopathy will relapse following treatment withdrawal, and until robust predictors of relapse are defined, treatment should continue indefinitely.
Journal ArticleDOI
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
Melissa A. Kelly,Colleen Caleshu,Ana Morales,Jillian G. Buchan,Zena T. Wolf,Steven M. Harrison,Stuart A. Cook,Mitchell W Dillon,John Garcia,Eden Haverfield,Jan D. H. Jongbloed,Daniela Macaya,Arjun K. Manrai,Kate M. Orland,Gabriele Richard,Katherine Spoonamore,Matthew J Thomas,K Thomson,K Thomson,Lisa M. Vincent,Roddy Walsh,Hugh Watkins,Nicola Whiffin,Jodie Ingles,J. Peter van Tintelen,Christopher Semsarian,James S. Ware,Ray E. Hershberger,Birgit Funke,Birgit Funke +29 more
TL;DR: These adapted rules provide increased specificity for use in MYH7-associated disorders in combination with expert review and clinical judgment and serve as a stepping stone for genes and disorders with similar genetic and clinical characteristics.