Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

KK Alharbi; MA Aldahmesh; E Spanakis; L Haddad; RA Whittall; X Chen; H Rassoulian; MJ Smith; J Sillibourne; NJ Ball; NJ Graham; PJ Briggs; IA Simpson; DIW Phillips; DA Lawlor; S Ye; SE Humphries; C Cooper; G Davey Smith; S Ebrahim; DM Eccles; INM Day

doi:10.1101/gr.3313405

Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

KK Alharbi, MA Aldahmesh, E Spanakis, L Haddad, RA Whittall, X Chen, H Rassoulian, MJ Smith, J Sillibourne, NJ Ball, NJ Graham, PJ Briggs, IA Simpson, DIW Phillips, DA Lawlor, S Ye, SE Humphries, C Cooper, G Davey Smith, S EbrahimDM Eccles, INM Day

Research output: Contribution to journal › Article (Academic Journal) › peer-review

19 Citations (Scopus)

Translated title of the contribution	Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population
Original language	English
Pages (from-to)	967 - 977
Number of pages	11
Journal	Genome Research
Volume	15 (7)
DOIs	https://doi.org/10.1101/gr.3313405
Publication status	Published - Jul 2005

Bibliographical note

Publisher: Cold Spring Harbor Laboratory

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10.1101/gr.3313405

http://www.genome.org/cgi/content/abstract/15/7/967

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Alharbi, KK., Aldahmesh, MA., Spanakis, E., Haddad, L., Whittall, RA., Chen, X., Rassoulian, H., Smith, MJ., Sillibourne, J., Ball, NJ., Graham, NJ., Briggs, PJ., Simpson, IA., Phillips, DIW., Lawlor, DA., Ye, S., Humphries, SE., Cooper, C., Davey Smith, G., ... Day, INM. (2005). Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population. Genome Research, 15 (7), 967 - 977. https://doi.org/10.1101/gr.3313405

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title = "Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population",

author = "KK Alharbi and MA Aldahmesh and E Spanakis and L Haddad and RA Whittall and X Chen and H Rassoulian and MJ Smith and J Sillibourne and NJ Ball and NJ Graham and PJ Briggs and IA Simpson and DIW Phillips and DA Lawlor and S Ye and SE Humphries and C Cooper and {Davey Smith}, G and S Ebrahim and DM Eccles and INM Day",

note = "Publisher: Cold Spring Harbor Laboratory",

year = "2005",

month = jul,

doi = "10.1101/gr.3313405",

language = "English",

volume = "15 (7)",

pages = "967 -- 977",

journal = "Genome Research",

issn = "1549-5469",

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Alharbi, KK, Aldahmesh, MA, Spanakis, E, Haddad, L, Whittall, RA, Chen, X, Rassoulian, H, Smith, MJ, Sillibourne, J, Ball, NJ, Graham, NJ, Briggs, PJ, Simpson, IA, Phillips, DIW, Lawlor, DA, Ye, S, Humphries, SE, Cooper, C, Davey Smith, G, Ebrahim, S, Eccles, DM & Day, INM 2005, 'Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population', Genome Research, vol. 15 (7), pp. 967 - 977. https://doi.org/10.1101/gr.3313405

Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population. / Alharbi, KK; Aldahmesh, MA; Spanakis, E et al.
In: Genome Research, Vol. 15 (7), 07.2005, p. 967 - 977.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

TY - JOUR

T1 - Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

AU - Alharbi, KK

AU - Aldahmesh, MA

AU - Spanakis, E

AU - Haddad, L

AU - Whittall, RA

AU - Chen, X

AU - Rassoulian, H

AU - Smith, MJ

AU - Sillibourne, J

AU - Ball, NJ

AU - Graham, NJ

AU - Briggs, PJ

AU - Simpson, IA

AU - Phillips, DIW

AU - Lawlor, DA

AU - Ye, S

AU - Humphries, SE

AU - Cooper, C

AU - Davey Smith, G

AU - Ebrahim, S

AU - Eccles, DM

AU - Day, INM

N1 - Publisher: Cold Spring Harbor Laboratory

PY - 2005/7

Y1 - 2005/7

U2 - 10.1101/gr.3313405

DO - 10.1101/gr.3313405

M3 - Article (Academic Journal)

SN - 1549-5469

VL - 15 (7)

SP - 967

EP - 977

JO - Genome Research

JF - Genome Research

ER -