A combined linkage-physical map of the human genome

X. Kong; K. Murphy; T. Raj; C. He; P. S. White; Tara C. Matise

doi:10.1086/426405

A combined linkage-physical map of the human genome

X. Kong
, K. Murphy
, T. Raj
, C. He
, P. S. White
, Tara C. Matise

Research output: Contribution to journal › Article › peer-review

199 Scopus citations

Abstract

We have constructed de novo a high-resolution genetic map that includes the largest set, to our knowledge, of polymorphic markers (N = 14,759) for which genotype data are publicly available; that combines genotype data from both the Centre d'Etude du Polymorphisme Humain (CEPH) and deCODE pedigrees; that incorporates single-nucleotide polymorphisms; and that also incorporates sequence-based positional information. The position of all markers on our map is corroborated by both genomic sequence and recombination-based data. This specific combination of features maximizes marker inclusion, coverage, and resolution, making this map uniquely suitable as a comprehensive resource for determining genetic map information (order and distances) for any large set of polymorphic markers.

Original language	English
Pages (from-to)	1143-1148
Number of pages	6
Journal	American Journal of Human Genetics
Volume	75
Issue number	6
DOIs	https://doi.org/10.1086/426405
State	Published - Dec 2004
Externally published	Yes

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title = "A combined linkage-physical map of the human genome",

abstract = "We have constructed de novo a high-resolution genetic map that includes the largest set, to our knowledge, of polymorphic markers (N = 14,759) for which genotype data are publicly available; that combines genotype data from both the Centre d'Etude du Polymorphisme Humain (CEPH) and deCODE pedigrees; that incorporates single-nucleotide polymorphisms; and that also incorporates sequence-based positional information. The position of all markers on our map is corroborated by both genomic sequence and recombination-based data. This specific combination of features maximizes marker inclusion, coverage, and resolution, making this map uniquely suitable as a comprehensive resource for determining genetic map information (order and distances) for any large set of polymorphic markers.",

author = "X. Kong and K. Murphy and T. Raj and C. He and White, \{P. S.\} and Matise, \{Tara C.\}",

note = "Funding Information: We are grateful to deCODE Genetics for allowing us to use their genotype data. We thank Suzanne Leal and Linda Brzustowicz for helpful discussions. This work was partially supported by National Institutes of Health grants HG01691 (to T.C.M.) and MH60240 (to P.S.W.) and by March of Dimes grant 12-FY02-108 (to T.C.M.). ",

year = "2004",

month = dec,

doi = "10.1086/426405",

language = "English",

volume = "75",

pages = "1143--1148",

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T1 - A combined linkage-physical map of the human genome

AU - Kong, X.

AU - Murphy, K.

AU - Raj, T.

AU - He, C.

AU - White, P. S.

AU - Matise, Tara C.

N1 - Funding Information: We are grateful to deCODE Genetics for allowing us to use their genotype data. We thank Suzanne Leal and Linda Brzustowicz for helpful discussions. This work was partially supported by National Institutes of Health grants HG01691 (to T.C.M.) and MH60240 (to P.S.W.) and by March of Dimes grant 12-FY02-108 (to T.C.M.).

PY - 2004/12

Y1 - 2004/12

N2 - We have constructed de novo a high-resolution genetic map that includes the largest set, to our knowledge, of polymorphic markers (N = 14,759) for which genotype data are publicly available; that combines genotype data from both the Centre d'Etude du Polymorphisme Humain (CEPH) and deCODE pedigrees; that incorporates single-nucleotide polymorphisms; and that also incorporates sequence-based positional information. The position of all markers on our map is corroborated by both genomic sequence and recombination-based data. This specific combination of features maximizes marker inclusion, coverage, and resolution, making this map uniquely suitable as a comprehensive resource for determining genetic map information (order and distances) for any large set of polymorphic markers.

AB - We have constructed de novo a high-resolution genetic map that includes the largest set, to our knowledge, of polymorphic markers (N = 14,759) for which genotype data are publicly available; that combines genotype data from both the Centre d'Etude du Polymorphisme Humain (CEPH) and deCODE pedigrees; that incorporates single-nucleotide polymorphisms; and that also incorporates sequence-based positional information. The position of all markers on our map is corroborated by both genomic sequence and recombination-based data. This specific combination of features maximizes marker inclusion, coverage, and resolution, making this map uniquely suitable as a comprehensive resource for determining genetic map information (order and distances) for any large set of polymorphic markers.

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JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -

A combined linkage-physical map of the human genome

Abstract

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