Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. (Q47547338)

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scientific article published on 11 January 2018

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English	Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.	scientific article published on 11 January 2018

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scholarly article

1 reference

Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. (English)

1 reference

Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Caroline F. Wright

1

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13 July 2018

http://europepmc.org/abstract/PMC/5912505

17

object named as

Helen V Firth

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Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

author name string

Jeremy F McRae

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Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Stephen Clayton

3

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13 July 2018

http://europepmc.org/abstract/PMC/5912505

Giuseppe Gallone

4

1 reference

Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Stuart Aitken

5

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Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Tomas W FitzGerald

6

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Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Philip Jones

7

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Europe PubMed Central

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http://europepmc.org/abstract/PMC/5912505

Elena Prigmore

8

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Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Diana Rajan

9

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13 July 2018

http://europepmc.org/abstract/PMC/5912505

Jenny Lord

10

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13 July 2018

http://europepmc.org/abstract/PMC/5912505

Alejandro Sifrim

11

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Europe PubMed Central

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http://europepmc.org/abstract/PMC/5912505

Rosemary Kelsell

12

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Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Michael J Parker

13

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Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Jeffrey C Barrett

14

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http://europepmc.org/abstract/PMC/5912505

Matthew E Hurles

15

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Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

David R FitzPatrick

16

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13 July 2018

http://europepmc.org/abstract/PMC/5912505

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publication date

11 January 2018

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Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

Genetics in Medicine

1 reference

Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

https://scigraph.springernature.com/pub.10.1038/gim.2017.246

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Lessons learned from additional research analyses of unsolved clinical exome cases

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15 July 2018

Prevalence and architecture of de novo mutations in developmental disorders

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5912505

15 July 2018

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

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15 July 2018

Analysis of protein-coding genetic variation in 60,706 humans

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15 July 2018

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

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15 July 2018

The Ensembl Variant Effect Predictor

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15 July 2018

Clinical application of whole-exome sequencing across clinical indications

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15 July 2018

Principle of proportionality in genomic data sharing

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A global reference for human genetic variation

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15 July 2018

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

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15 July 2018

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

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15 July 2018

The European Genome-phenome Archive of human data consented for biomedical research.

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15 July 2018

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

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15 July 2018

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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15 July 2018

Mosaic structural variation in children with developmental disorders

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15 July 2018

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5912505

15 July 2018

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.

1 reference

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15 July 2018

Choice of transcripts and software has a large effect on variant annotation

1 reference

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15 July 2018

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

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15 July 2018

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

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15 July 2018

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5912505

15 July 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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15 July 2018

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

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15 July 2018

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

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15 July 2018

Exome sequencing as a tool for Mendelian disease gene discovery

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15 July 2018

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

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15 July 2018

A method and server for predicting damaging missense mutations

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15 July 2018

The Sequence Alignment/Map format and SAMtools

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15 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

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15 July 2018

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

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15 July 2018

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

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14 August 2018

Large-scale discovery of novel genetic causes of developmental disorders

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14 August 2018

Identifiers

10.1038/GIM.2017.246

1 reference

Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

1 reference

Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

1 reference

Europe PubMed Central

13 July 2018

http://europepmc.org/abstract/PMC/5912505

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