Autozygosity mapping with exome sequence data (Q30574485)

25 June 2017

Autozygosity mapping with exome sequence data (English)

1 reference

25 June 2017

8

1 reference

25 June 2017

7

David T Bonthron

0 references

Ian M. Carr

1

Ian M Carr

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Alexander Markham

6

Alexander F Markham

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Mohammed A Aldahmesh

Mohammed A Aldahmesh

4

0 references

Fowzan S Alkuraya

9

Fowzan S Alkuraya

1 reference

25 June 2017

Sanjeev Bhaskar

2

1 reference

PubMed ID

23090942

25 June 2017

James O'Sullivan

3

1 reference

PubMed ID

23090942

25 June 2017

Hanan E Shamseldin

5

1 reference

25 June 2017

22 October 2012

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25 June 2017

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25 June 2017

34

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25 June 2017

1

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25 June 2017

50-56

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Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

25 June 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

HomozygosityMapper--an interactive approach to homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22220

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22220

1 reference

25 June 2017

1 reference

PubMed ID

23090942