Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility (Q35477868)

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12 March 2020

title

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility (English)

1 reference

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12 March 2020

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4

Renius Owen

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12 March 2020

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Charles M Strom

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Klaas J Wierenga

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12 March 2020

author name string

Jia-Chi Wang

1

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12 March 2020

Leslie Ross

2

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12 March 2020

Loretta W Mahon

3

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Morteza Hemmat

5

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12 March 2020

Boris T Wang

6

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12 March 2020

Mohammed El Naggar

7

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12 March 2020

Kimberly A Kopita

8

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Linda M Randolph

9

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John M Chase

10

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12 March 2020

Maria J Matas Aguilera

11

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Juan López Siles

12

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12 March 2020

Joseph A Church

13

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12 March 2020

Natalie Hauser

14

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12 March 2020

Marilyn C Jones

16

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Zhijie Jiang

18

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Mary Haddadin

19

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Fatih Z Boyar

20

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12 March 2020

Arturo Anguiano

21

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Trilochan Sahoo

23

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publication date

13 August 2014

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European Journal of Human Genetics

12 March 2020

published in

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volume

23

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issue

5

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12 March 2020

page(s)

663-671

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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

12 March 2020

cites work

1 reference

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Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.

12 July 2018

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A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

12 July 2018

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Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

12 July 2018

1 reference

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Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations

12 July 2018

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Small supernumerary marker chromosomes and uniparental disomy have a story to tell

12 July 2018

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Genomic runs of homozygosity record population history and consanguinity

12 July 2018

1 reference

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Cytogenetic contribution to uniparental disomy (UPD).

12 July 2018

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Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

12 July 2018

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Runs of homozygosity in European populations

12 July 2018

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Risk factors for non-fatal myocardial infarction in young South Asian adults

12 July 2018

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Inbreeding and the genetic complexity of human hypertension.

12 July 2018

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Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.

12 July 2018

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Identification of incestuous parental relationships by SNP-based DNA microarrays.

26 September 2018

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Extended tracts of homozygosity in outbred human populations

26 September 2018

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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

26 September 2018

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Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing

26 September 2018

1 reference

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Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits

15 November 2018

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UPD detection using homozygosity profiling with a SNP genotyping microarray

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25118026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.153

1 reference

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12 March 2020

1 reference

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12 March 2020

PubMed publication ID

25118026

1 reference

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