Browsing by Author Kosmicki, JA

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)
18-Aug-2016Analysis of protein-coding genetic variation in 60,706 humansLek, M; Karczewski, KJ; Minikel, EV; Samocha, KE; Banks, E, et al
3-Feb-2021Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humansKarczewski, KJ; Francioli, LC; Tiao, G; Cummings, BB; Alfoldi, J, et al
17-Mar-2020Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disordersLal, D; May, P; Perez-Palma, E; Samocha, KE; Kosmicki, JA, et al
28-May-2020The mutational constraint spectrum quantified from variation in 141,456 humansKarczewski, KJ; Francioli, LC; Tiao, G; Cummings, BB; Alföldi, J, et al
9-Aug-2021The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)Gudmundsson, S; Karczewski, KJ; Francioli, LC; Tiao, G; Cummings, BB, et al
27-May-2020Transcript expression-aware annotation improves rare variant interpretation.Cummings, BB; Karczewski, KJ; Kosmicki, JA; Seaby, EG; Watts, NA, et al
7-Mar-2022Whole genome sequencing reveals host factors underlying critical Covid-19Kousathanas, A; Pairo-Castineira, E; Rawlik, K; Stuckey, A; Odhams, CA, et al