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Browsing Center for Genomic Regulation (CRG) by Subject "Whole-exome sequencing"

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eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas Remolar, Francesc, 1992-; Rabionet, Raquel; Bezdan, Daniela; Domènech Salgado, Laura, 1989-; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan (Wiley, 2019)

Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in ...
Integrated analysis of germline and tumor DNA identifies new candidate genes involved in familial colorectal cancer

Díaz-Gay, Marcos; Park, Solip; Parra Farré, Genís; Laurie, Steven, 1973-; Beltran, Sergi; Castellví Bel, Sergi (MDPI, 2019)

Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial ...
Loss-of-function mutations in LGI4, a secreted ligand involved in schwann cell myelination, are responsible for arthrogryposis multiplex congenita

Xue, Shifeng; Gut, Marta; Gut, Ivo Glynne; Melki, Judith (Elsevier, 2017)

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome ...

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Browsing Center for Genomic Regulation (CRG) by Subject "Whole-exome sequencing"

Browsing Center for Genomic Regulation (CRG) by Subject "Whole-exome sequencing"

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