Shared Runs of Heterozygosity Mapping using whole genome sequencing reveals a complex structural variant in GSN causing novel cutaneous-visceral organ Gelsolin amyloidosis

Genomics England Res Consortium

Shared Runs of Heterozygosity Mapping using whole genome sequencing reveals a complex structural variant in GSN causing novel cutaneous-visceral organ Gelsolin amyloidosis

Genomics England Res Consortium

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Pages (from-to)	155-156
Number of pages	2
Journal	European Journal of Human Genetics
Volume	30
Issue number	SUPPL 1
Publication status	Published - Apr 2022

Cite this

@article{d470c206d32e4b29a29bd686c00dd71c,

title = "Shared Runs of Heterozygosity Mapping using whole genome sequencing reveals a complex structural variant in GSN causing novel cutaneous-visceral organ Gelsolin amyloidosis",

author = "{Genomics England Res Consortium} and G Sobey and A Wechalekar and D Rowczenio and G Beaman and R McMahon and A Goldman and S Lovell and J Clayton-Smith and S Banka",

year = "2022",

month = apr,

language = "English",

volume = "30",

pages = "155--156",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "SUPPL 1",

}

Shared Runs of Heterozygosity Mapping using whole genome sequencing reveals a complex structural variant in GSN causing novel cutaneous-visceral organ Gelsolin amyloidosis. / Genomics England Res Consortium.
In: European Journal of Human Genetics, Vol. 30, No. SUPPL 1, 04.2022, p. 155-156.

Research output: Contribution to journal › Meeting Abstract › peer-review

TY - JOUR

T1 - Shared Runs of Heterozygosity Mapping using whole genome sequencing reveals a complex structural variant in GSN causing novel cutaneous-visceral organ Gelsolin amyloidosis

AU - Genomics England Res Consortium

AU - Sobey, G

AU - Wechalekar, A

AU - Rowczenio, D

AU - Beaman, G

AU - McMahon, R

AU - Goldman, A

AU - Lovell, S

AU - Clayton-Smith, J

AU - Banka, S

PY - 2022/4

Y1 - 2022/4

UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000779367700408&DestLinkType=FullRecord&DestApp=WOS

M3 - Meeting Abstract

SN - 1018-4813

VL - 30

SP - 155

EP - 156

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - SUPPL 1

ER -

Shared Runs of Heterozygosity Mapping using whole genome sequencing reveals a complex structural variant in <i>GSN</i> causing novel cutaneous-visceral organ Gelsolin amyloidosis

Other files and links

Cite this