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The effect of LRRK2 loss-of-function variants in humans.

Authors :Whiffin N , Armean IM , Kleinman A , Marshall JL , Minikel EV , Goodrich JK , Quaife NM , Cole JB , Wang Q , Karczewski KJ , Cummings BB , Francioli L , Laricchia K , Guan A , Alipanahi B , Morrison P , Baptista MAS , Merchant KM , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Ware JS , Havulinna AS , Iliadou B , Lee JJ , Nadkarni GN , Whiteman C , 23andMe Research Team , Daly M , Esko T , Hultman C , Loos RJF , Milani L , Palotie A , Pato C , Pato M , Saleheen D , Sullivan PF , Alföldi J , Cannon P , MacArthur DG
Published On :2020 Jun
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Transcript expression-aware annotation improves rare variant interpretation.

Authors :Cummings BB , Karczewski KJ , Kosmicki JA , Seaby EG , Watts NA , Singer-Berk M , Mudge JM , Karjalainen J , Satterstrom FK , O'Donnell-Luria AH , Poterba T , Seed C , Solomonson M , Alföldi J , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Daly MJ , MacArthur DG
Published On :2020 May
Journal Article


The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors :Karczewski KJ , Francioli LC , Tiao G , Cummings BB , Alföldi J , Wang Q , Collins RL , Laricchia KM , Ganna A , Birnbaum DP , Gauthier LD , Brand H , Solomonson M , Watts NA , Rhodes D , Singer-Berk M , England EM , Seaby EG , Kosmicki JA , Walters RK , Tashman K , Farjoun Y , Banks E , Poterba T , Wang A , Seed C , Whiffin N , Chong JX , Samocha KE , Pierce-Hoffman E , Zappala Z , O'Donnell-Luria AH , Minikel EV , Weisburd B , Lek M , Ware JS , Vittal C , Armean IM , Bergelson L , Cibulskis K , Connolly KM , Covarrubias M , Donnelly S , Ferriera S , Gabriel S , Gentry J , Gupta N , Jeandet T , Kaplan D , Llanwarne C , Munshi R , Novod S , Petrillo N , Roazen D , Ruano-Rubio V , Saltzman A , Schleicher M , Soto J , Tibbetts K , Tolonen C , Wade G , Talkowski ME , Genome Aggregation Database Consortium , Neale BM , Daly MJ , MacArthur DG
Published On :2020 May
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Evaluating drug targets through human loss-of-function genetic variation.

Authors :Minikel EV , Karczewski KJ , Martin HC , Cummings BB , Whiffin N , Rhodes D , Alföldi J , Trembath RC , van Heel DA , Daly MJ , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Schreiber SL , MacArthur DG
Published On :2020 May
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


A structural variation reference for medical and population genetics.

Authors :Collins RL , Brand H , Karczewski KJ , Zhao X , Alföldi J , Francioli LC , Khera AV , Lowther C , Gauthier LD , Wang H , Watts NA , Solomonson M , O'Donnell-Luria A , Baumann A , Munshi R , Walker M , Whelan CW , Huang Y , Brookings T , Sharpe T , Stone MR , Valkanas E , Fu J , Tiao G , Laricchia KM , Ruano-Rubio V , Stevens C , Gupta N , Cusick C , Margolin L , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Taylor KD , Lin HJ , Rich SS , Post WS , Chen YI , Rotter JI , Nusbaum C , Philippakis A , Lander E , Gabriel S , Neale BM , Kathiresan S , Daly MJ , Banks E , MacArthur DG , Talkowski ME
Published On :2020 May
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

Authors :Whiffin N , Karczewski KJ , Zhang X , Chothani S , Smith MJ , Evans DG , Roberts AM , Quaife NM , Schafer S , Rackham O , Alföldi J , O'Donnell-Luria AH , Francioli LC , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Cook SA , Barton PJR , MacArthur DG , Ware JS
Published On :2020 May 27
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

Authors :Wang Q , Pierce-Hoffman E , Cummings BB , Alföldi J , Francioli LC , Gauthier LD , Hill AJ , O'Donnell-Luria AH , Genome Aggregation Database Production Team , Genome Aggregation Database Consortium , Karczewski KJ , MacArthur DG
Published On :2020 May 27
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Systematic evaluation of machine learning methods for identifying human-pathogen protein-protein interactions.

Authors :Chen H , Li F , Wang L , Jin Y , Chi CH , Kurgan L , Song J , Shen J
Published On :2021 May 20
Journal Article


Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.

Authors :Quiat D , Witkowski L , Zouk H , Daly KP , Roberts AE
Published On :2020 Jun 2
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Biochemical Mechanisms, Cross-resistance and Stability of Resistance to Metaflumizone in Plutella xylostella.

Authors :Shen J , Li Z , Li D , Wang R , Zhang S , You H , Li J
Published On :2020 May 15
Journal Article


Correlates of Nonanemic Iron Deficiency in Restless Legs Syndrome.

Authors :Zhu XY , Wu TT , Wang HM , Li X , Ni LY , Chen TJ , Qiu MY , Shen J , Liu T , Ondo WG , Wu YC
Published On :2020
Journal Article


Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts.

Authors :Zhou W , Zhao Z , Nielsen JB , Fritsche LG , LeFaive J , Gagliano Taliun SA , Bi W , Gabrielsen ME , Daly MJ , Neale BM , Hveem K , Abecasis GR , Willer CJ , Lee S
Published On :2020 Jun
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Recent advance on PTP1B inhibitors and their biomedical applications.

Authors :Sharma B , Xie L , Yang F , Wang W , Zhou Q , Xiang M , Zhou S , Lv W , Jia Y , Pokhrel L , Shen J , Xiao Q , Gao L , Deng W
Published On :2020 Aug 1
Journal Article Review


Clinically Applicable AI System for Accurate Diagnosis, Quantitative Measurements, and Prognosis of COVID-19 Pneumonia Using Computed Tomography.

Authors :Zhang K , Liu X , Shen J , Li Z , Sang Y , Wu X , Zha Y , Liang W , Wang C , Wang K , Ye L , Gao M , Zhou Z , Li L , Wang J , Yang Z , Cai H , Xu J , Yang L , Cai W , Xu W , Wu S , Zhang W , Jiang S , Zheng L , Zhang X , Wang L , Lu L , Li J , Yin H , Wang W , Li O , Zhang C , Liang L , Wu T , Deng R , Wei K , Zhou Y , Chen T , Lau JY , Fok M , He J , Lin T , Li W , Wang G
Published On :2020 Jun 11
Journal Article Research Support, Non-U.S. Gov't


Osteoarthritis of the Temporomandibular Joint can be diagnosed earlier using biomarkers and machine learning.

Authors :Bianchi J , de Oliveira Ruellas AC , Gonçalves JR , Paniagua B , Prieto JC , Styner M , Li T , Zhu H , Sugai J , Giannobile W , Benavides E , Soki F , Yatabe M , Ashman L , Walker D , Soroushmehr R , Najarian K , Cevidanes LHS
Published On :2020 May 15
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't