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Complex structural variants in Mendelian disorders: identif..:

Sanchis-Juan, A ; Stephens, J ; French, CE...
https://discovery.ucl.ac.uk/id/eprint/10071523/7/Arno_Complex%20structural%20variants%20in%20Mendelian%20disorders.%20Identification%20and%20breakpoint%20resolution%20using%20short-%20and%20long-read%20genome%20sequencing_VoR.pdf. , 2018

Link: https://discovery.ucl.ac.uk/id/eprint/10071523/7/Arno_..

RT Journal
T1 <Title>Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10071523&Exemplar=1&LAN=DE
				
A1 Sanchis-Juan, A
A1 Stephens, J
A1 French, CE
A1 Gleadall, N
A1 Megy, K
A1 Penkett, C
A1 Shamardina, O
A1 Stirrups, K
A1 Delon, I
A1 Dewhurst, E
A1 Dolling, H
A1 Erwood, M
A1 Grozeva, D
A1 Stefanucci, L
A1 Arno, G
A1 Webster, AR
A1 Cole, T
A1 Austin, T
A1 Branco, RG
A1 Ouwehand, WH
A1 Raymond, FL
A1 Carss, KJ
PB BMC
YR 2018
K1 Genome sequencing
K1 Next-generation sequencing
K1 Complex structural variant
K1 Nanopore
K1 ARID1B
K1 HNRNPU
K1 CEP78
K1 CDKL5
JF https://discovery.ucl.ac.uk/id/eprint/10071523/7/Arno_Complex%20structural%20variants%20in%20Mendelian%20disorders.%20Identification%20and%20breakpoint%20resolution%20using%20short-%20and%20long-read%20genome%20sequencing_VoR.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10071523/7/Arno_Complex%20structural%20variants%20in%20Mendelian%20disorders.%20Identification%20and%20breakpoint%20resolution%20using%20short-%20and%20long-read%20genome%20sequencing_VoR.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10071523/7/Arno_Complex%20structural%20variants%20in%20Mendelian%20disorders.%20Identification%20and%20breakpoint%20resolution%20using%20short-%20and%20long-read%20genome%20sequencing_VoR.pdf
SF ELIB - SuUB Bremen

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