A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders (Q28383337)

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English	A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders	scientific article

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3 March 2020

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders (English)

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3 March 2020

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Daniel A King

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3 March 2020

Ray Miller

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3 March 2020

Natalie Canham

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3 March 2020

Jill Clayton-Smith

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3 March 2020

Diana Johnson

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3 March 2020

Sahar Mansour

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3 March 2020

Fiona Stewart

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3 March 2020

Pradeep Vasudevan

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3 March 2020

DDD Study

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3 March 2020

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19 December 2013

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3 March 2020

Genome Research

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3 March 2020

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3 March 2020

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3 March 2020

673-687

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3 March 2020

Detectable clonal mosaicism and its relationship to aging and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

Mapping copy number variation by population-scale genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

The impact of next-generation sequencing technology on genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

The misdiagnosis of epilepsy in children admitted to a tertiary epilepsy centre with paroxysmal events

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

Mechanisms leading to uniparental disomy and their clinical consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

Uniparental disomy as a mechanism for human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

Origins and functional impact of copy number variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

The cerebellum-specific Munc13 isoform Munc13-3 regulates cerebellar synaptic transmission and motor learning in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

20 March 2017

BEDTools: a flexible suite of utilities for comparing genomic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

7 April 2017

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

7 April 2017

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

7 April 2017

The variant call format and VCFtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

7 April 2017

Distribution and intensity of constraint in mammalian genomic sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

7 April 2017

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

DeNovoGear: de novo indel and point mutation discovery and phasing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Modeling read counts for CNV detection in exome sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

CONTRA: copy number analysis for targeted resequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Dindel: accurate indel calls from short-read data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Characterising and predicting haploinsufficiency in the human genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Allele-specific copy number analysis of tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Uniparental disomy and human disease: an overview.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

R-Gada: a fast and flexible pipeline for copy number analysis in association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

A robust statistical method for case-control association testing with copy number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Complex and segmental uniparental disomy updated

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Family-based versus unrelated case-control designs for genetic associations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Quantile smoothing of array CGH data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

Maternal uniparental disomy for chromosome 14

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

29 September 2017

A genotype calling algorithm for the Illumina BeadArray platform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

2 June 2018

UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

27 November 2018

Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

27 November 2018

The Deciphering Developmental Disorders (DDD) study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

27 November 2018

Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

27 November 2018

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975066

27 November 2018

Long contiguous stretches of homozygosity in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24356988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24356988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

UPD detection using homozygosity profiling with a SNP genotyping microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/24356988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24356988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24356988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1101/GR.160465.113

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Europe PubMed Central

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3 March 2020

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3 March 2020

PubMed publication ID

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Europe PubMed Central

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3 March 2020

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