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Comparison of the ABC and ACMG systems for variant classification
Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; rea-Fernández, Alejandro J.B; Mayer, KarinThe ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, and to state if the variant in question would be reported as a relevant result or not as a measure of clinical utility. In contrast to the ABC system, the ACMG system was not made to guide variant reporting but to determine the likelihood ...
Comparison of the ABC and ACMG systems for variant classification
Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; Brea-Fernández, Alejandro J.; Mayer, KarinThe ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, and to state if the variant in question would be reported as a relevant result or not as a measure of clinical utility. In contrast to the ABC system, the ACMG system was not made to guide variant reporting but to determine the likelihood ...
NGS mapped breakpoints in balanced chromosomal rearrangements including the fir...
Tommerup, Niels; Fonseca, Ana Carolina; Mehrjouy, Mana; Rasmussen, Malene B.; Bache, Iben; Halgren, Christina; Kroisel, Peter; Midyan, SusannaMade available in DSpace on 2018-11-26T17:40:47Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-06-29; Univ Copenhagen, Dept Cellular & Mol Med, Copenhagen, Denmark; Univ Sao Paulo, Dept Genet &Biol Evolut, Sao Paulo, Brazil; Med Univ Graz, Inst Humangenet, Graz, Austria; Ctr Med Genet, Center Med Genet & Primary Hlth Care, Yerevan, Armenia; Univ Leuven, Dept Human Genet, Leuven, Belgium; Rede Sarah Hosp...