Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

JM Ellingford; HB Thomas; C Rowlands; G Arno; G Beaman; B Gomes-Silva; C Campbell; N Gossan; C Hardcastle; K Webb; C O'Callaghan; RA Hirst; Genomics England Research Consortium

doi:10.1101/781088

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

JM Ellingford, HB Thomas, C Rowlands, G Arno, G Beaman, B Gomes-Silva, C Campbell, N Gossan, C Hardcastle, K Webb, C O'Callaghan, RA Hirst, Genomics England Research Consortium

Research output: Contribution to journal › Article

Original language	English
Journal	bioRxiv
DOIs	https://doi.org/10.1101/781088
Publication status	Published - 26 Sep 2019

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10.1101/781088

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title = "Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders",

author = "JM Ellingford and HB Thomas and C Rowlands and G Arno and G Beaman and B Gomes-Silva and C Campbell and N Gossan and C Hardcastle and K Webb and C O'Callaghan and RA Hirst and Consortium, {Genomics England Research}",

year = "2019",

month = sep,

day = "26",

doi = "10.1101/781088",

language = "English",

journal = "bioRxiv",

issn = "2692-8205",

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TY - JOUR

T1 - Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

AU - Ellingford, JM

AU - Thomas, HB

AU - Rowlands, C

AU - Arno, G

AU - Beaman, G

AU - Gomes-Silva, B

AU - Campbell, C

AU - Gossan, N

AU - Hardcastle, C

AU - Webb, K

AU - O'Callaghan, C

AU - Hirst, RA

AU - Consortium, Genomics England Research

PY - 2019/9/26

Y1 - 2019/9/26

UR - http://europepmc.org/abstract/PPR/PPR93882

U2 - 10.1101/781088

DO - 10.1101/781088

M3 - Article

JO - bioRxiv

JF - bioRxiv

SN - 2692-8205

ER -

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

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