摘要
In recent years,the number of known disease genes has exponentially grown due to the widespread adoption of cost-effective massive parallel sequencing.To identify new disease variants,especially in monogenic disorders,a frequency-based filtering approach has proved very useful(Dopazo et al.,2016).
基金
funded by Instituto de Salud Carlos Ill(IsCll)and co-funded by the European Union(grants Pl16/00612 and PI20/01200 to MCS)
Junta de Andalucia-Consejeria de Salud y Consumo(grant PIER-0468-2019 to MCS)
MCS has been supported by ISCIII(JR15/00042)
Junta de Andalucia-Consejeria de Salud y Consumo(B-0005-2017)
JD has been supported by grants PID2020-117979RB-100 from the Spanish Ministry of Science and Innovation and IMP/00019 from the Instituto de Salud Carlos III(ISCIII)
RC has been supported by Junta de Andalucia-Consejeria de Salud y Familias(RH-0052-2021)
by the European Union,European Social Fund(FSE)2014-2020.
