Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: PTPRC: 3545T>C; Leu1182Ser; rs114970039
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Clinical And Experimental Immunology
Dasouki, M M; Jabr, A A; AlDakheel, G G; Elbadaoui, F F; Alazami, A M AM; Al-Saud, B B; Arnaout, R R; Aldhekri, H H; Alotaibi, I I; Al-Mousa, H H; Hawwari, A A
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: PTPRC: L1182S; rs114970039