HomozygosityMapper--an interactive approach to homozygosity mapping (Q41904211)

13 October 2017

HomozygosityMapper--an interactive approach to homozygosity mapping (English)

1 reference

13 October 2017

1 reference

Dominik Seelow

1

0 references

Peter Nürnberg

series ordinal

4

object named as

Peter Nürnberg

1 reference

13 October 2017

Markus Schuelke

2

1 reference

PMCID

2703915

13 October 2017

Friedhelm Hildebrandt

series ordinal

3

1 reference

13 October 2017

21 May 2009

1 reference

13 October 2017

Nucleic Acids Research

1 reference

13 October 2017

37

1 reference

13 October 2017

W593-9

1 reference

13 October 2017

Web Server issue

1 reference

A systematic approach to mapping recessive disease genes in individuals from outbred populations

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

GeneDistiller--distilling candidate genes from linkage intervals

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Runs of homozygosity in European populations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

PLINK: a tool set for whole-genome association and population-based linkage analyses

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

The International HapMap Project

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Estimation of the inbreeding coefficient through use of genomic data

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Detection and integration of genotyping errors in statistical genetics

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

dbSNP: the NCBI database of genetic variation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Pitfalls in homozygosity mapping.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Allele-sharing models: LOD scores and accurate linkage tests

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Parametric and nonparametric linkage analysis: a unified multipoint approach

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Construction of multilocus genetic linkage maps in humans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2703915

Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKP369

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKP369

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKP369

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKP369

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19465395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Drawbacks of GENEHUNTER for larger pedigrees: application to panic disorder

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19465395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The impact of genotyping error on haplotype reconstruction and frequency estimation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19465395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKP369

1 reference

13 October 2017

journals/nar/SeelowSHN09

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

13 October 2017

1 reference

PMCID

2703915