Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1474-760X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes ; volume:12 ; number:9 ; day:14 ; month:9 ; year:2011 ; pages:1-9 ; date:9.2011
Genome biology ; 12, Heft 9 (14.9.2011), 1-9, 9.2011

Creator: Smith, Katherine R.

Contributor: Bromhead, Catherine J.
Hildebrand, Michael S.
Shearer, A Eliot
Lockhart, Paul J.
Najmabadi, Hossein
Leventer, Richard J.
McGillivray, George
Amor, David J.
Smith, Richard J.
Bahlo, Melanie
SpringerLink (Online service)

DOI: 10.1186/gb-2011-12-9-r85

URN: urn:nbn:de:1111-201605025931

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:57 AM CEST

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Associated

Smith, Katherine R.
Bromhead, Catherine J.
Hildebrand, Michael S.
Shearer, A Eliot
Lockhart, Paul J.
Najmabadi, Hossein
Leventer, Richard J.
McGillivray, George
Amor, David J.
Smith, Richard J.
Bahlo, Melanie
SpringerLink (Online service)

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Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

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Other Objects (12)

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Mining beyond the exome

Efficient linkage mapping using exome capture and extreme QTL in schistosome parasites

Reducing INDEL calling errors in whole genome and exome sequencing data

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Genome-wide linkage and exome analyses identify variants of HMCN1for splenic epidermoid cyst

Exome genotyping, linkage disequilibrium and population structure in loblolly pine (Pinus taeda L.)

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Mining beyond the exome

Efficient linkage mapping using exome capture and extreme QTL in schistosome parasites

Reducing INDEL calling errors in whole genome and exome sequencing data

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Genome-wide linkage and exome analyses identify variants of HMCN1for splenic epidermoid cyst

Exome genotyping, linkage disequilibrium and population structure in loblolly pine (Pinus taeda L.)

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Mining beyond the exome

Efficient linkage mapping using exome capture and extreme QTL in schistosome parasites

Reducing INDEL calling errors in whole genome and exome sequencing data

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Genome-wide linkage and exome analyses identify variants of HMCN1for splenic epidermoid cyst

Exome genotyping, linkage disequilibrium and population structure in loblolly pine (Pinus taeda L.)

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day

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