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Human Genetics|March 21, 2025
Critical assessment of missense variant effect predictors on disease-relevant variant dataRuchir Rastogi, Ryan Chung, Sindy Li, et al.Biorxiv : the Preprint Server for Biology|June 19, 2024
Critical assessment of missense variant effect predictors on disease-relevant variant dataRuchir Rastogi, Ryan Chung, Sindy Li, et al.Human Mutation|July 14, 2019
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variantsLaura Kasak, Constantina Bakolitsa, Zhiqiang Hu, et al.Plos Biology|March 16, 2007
The Sorcerer II Global Ocean Sampling expedition: expanding the universe of protein familiesShibu Yooseph, Granger Sutton, Douglas B Rusch, et al.Nature|August 29, 2014
Comparative analysis of regulatory information and circuits across distant speciesAlan P Boyle, Carlos L Araya, Cathleen Brdlik, et al.Human Genetics|February 20, 2025
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challengesPaola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, et al.Human Mutation|May 26, 2017
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challengesBinghuang Cai, Biao Li, Nikki Kiga, et al.European Journal of Human Genetics : EJHG|August 3, 2018
Registered access: authorizing data accessStephanie O M Dyke, Mikael Linden, Ilkka Lappalainen, et al.Nature|December 24, 2010
The developmental transcriptome of Drosophila melanogasterBrenton R Graveley, Angela N Brooks, Joseph W Carlson, et al.Pediatrics|January 19, 2017
Newborn Sequencing in Genomic Medicine and Public HealthJonathan S Berg, Pankaj B Agrawal, Donald B Bailey, et al.Pageof 18