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Allelic association discriminates draft orders

Allelic association discriminates draft orders
Allelic association discriminates draft orders
A year ago there was hope that a finished sequence of the human genome would soon be publicly available and would give a more reliable locus order than an unconstrained radiation hybrid or genetic map. Alas, there are now different draft orders for each region, none of which may be correct because of gaps, uncertain polarity of contigs, and errors in assembly. Shortly before these drafts became available, we analysed allelic association (also called linkage disequilibrium, LD) in the FRAX region in a large sample of haplotypes (Ennis et al. 2000). We demonstrate here that this material discriminates among alternative draft orders. To express support for discrimination between two values of ?2 = ?2 ln L we use the Akaike criterion AIC = df[?2/min ?2?1]. Excluding premutations and full mutations at FMR1, all maps have 715 degrees of freedom (df) among 717 pairs of alleles after accepting L = 0 and estimating M, in the Malecot equation E(?) = Me d, where ? is the association between a pair of alleles at distance d. An AIC in excess of 2 provides evidence against a map with the larger ?2.
Alleles, Bias, Chromosome Mapping, Genome, Human, Humans, Linkage Disequilibrium
0003-4800
503-504
Ennis, S
7b57f188-9d91-4beb-b217-09856146f1e9
Collins, A
2b0f10ef-06eb-4956-8fca-e6d254e9dce9
Tapper, W
9d5ddc92-a8dd-4c78-ac67-c5867b62724c
Murray, A
6416e2e4-8d45-4067-a527-be4491968171
MacPherson, J N
1069e9a6-a4c5-47da-b08e-e370ce281502
Morton, N E
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
Ennis, S
7b57f188-9d91-4beb-b217-09856146f1e9
Collins, A
2b0f10ef-06eb-4956-8fca-e6d254e9dce9
Tapper, W
9d5ddc92-a8dd-4c78-ac67-c5867b62724c
Murray, A
6416e2e4-8d45-4067-a527-be4491968171
MacPherson, J N
1069e9a6-a4c5-47da-b08e-e370ce281502
Morton, N E
c668e2be-074a-4a0a-a2ca-e8f51830ebb7

Ennis, S, Collins, A, Tapper, W, Murray, A, MacPherson, J N and Morton, N E (2001) Allelic association discriminates draft orders. Annals of Human Genetics, 65 (5), 503-504. (doi:10.1046/j.1469-1809.2001.6550503.x).

Record type: Article

Abstract

A year ago there was hope that a finished sequence of the human genome would soon be publicly available and would give a more reliable locus order than an unconstrained radiation hybrid or genetic map. Alas, there are now different draft orders for each region, none of which may be correct because of gaps, uncertain polarity of contigs, and errors in assembly. Shortly before these drafts became available, we analysed allelic association (also called linkage disequilibrium, LD) in the FRAX region in a large sample of haplotypes (Ennis et al. 2000). We demonstrate here that this material discriminates among alternative draft orders. To express support for discrimination between two values of ?2 = ?2 ln L we use the Akaike criterion AIC = df[?2/min ?2?1]. Excluding premutations and full mutations at FMR1, all maps have 715 degrees of freedom (df) among 717 pairs of alleles after accepting L = 0 and estimating M, in the Malecot equation E(?) = Me d, where ? is the association between a pair of alleles at distance d. An AIC in excess of 2 provides evidence against a map with the larger ?2.

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More information

Published date: September 2001
Keywords: Alleles, Bias, Chromosome Mapping, Genome, Human, Humans, Linkage Disequilibrium

Identifiers

Local EPrints ID: 24692
URI: http://eprints.soton.ac.uk/id/eprint/24692
ISSN: 0003-4800
PURE UUID: c6e8095b-2e3a-4638-86c5-d61e0775fd2b
ORCID for S Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for W Tapper: ORCID iD orcid.org/0000-0002-5896-1889

Catalogue record

Date deposited: 03 Apr 2006
Last modified: 16 Mar 2024 03:07

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Contributors

Author: S Ennis ORCID iD
Author: A Collins
Author: W Tapper ORCID iD
Author: A Murray
Author: J N MacPherson
Author: N E Morton

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