Exome sequencing as a tool for Mendelian disease gene discovery (Q29615382)

Europe PubMed Central

title

Exome sequencing as a tool for Mendelian disease gene discovery (English)

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Shendure J

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30 April 2017

Bamshad MJ

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Ng SB

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Bigham AW

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Tabor HK

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Emond MJ

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Nickerson DA

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21946919

30 April 2017

language of work or name

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publication date

27 September 2011

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30 April 2017

published in

Nature Reviews Genetics

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volume

12

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issue

11

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page(s)

745-55

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Mendelian Inheritance in Man and its online version, OMIM

30 April 2017

cites work

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Human genetics. Affordable 'exomes' fill gaps in a catalog of rare diseases

31 March 2020

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Mendelian disorders deserve more attention

31 March 2020

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Common vs. rare allele hypotheses for complex diseases

31 March 2020

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Finding the missing heritability of complex diseases

31 March 2020

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Genetic heterogeneity in human disease

31 March 2020

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Sequencing technologies - the next generation

31 March 2020

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Target-enrichment strategies for next-generation sequencing

31 March 2020

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Exome sequencing makes medical genomics a reality

31 March 2020

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Targeted capture and massively parallel sequencing of 12 human exomes

31 March 2020

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Exome sequencing identifies the cause of a mendelian disorder

31 March 2020

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

31 March 2020

1 reference

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

31 March 2020

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Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

31 March 2020

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Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

31 March 2020

1 reference

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

31 March 2020

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Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

31 March 2020

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Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).

31 March 2020

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Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese

31 March 2020

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Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

31 March 2020

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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

31 March 2020

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

31 March 2020

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

31 March 2020

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Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

31 March 2020

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Whole-exome-sequencing-based discovery of human FADD deficiency

31 March 2020

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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

31 March 2020

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Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

31 March 2020

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Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

31 March 2020

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Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

31 March 2020

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Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

31 March 2020

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

31 March 2020

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Exome sequencing reveals VCP mutations as a cause of familial ALS

31 March 2020

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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

31 March 2020

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Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

31 March 2020

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Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

31 March 2020

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MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes

31 March 2020

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

31 March 2020

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CEP152 is a genome maintenance protein disrupted in Seckel syndrome

31 March 2020

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PHAST and RPHAST: phylogenetic analysis with space/time models

31 March 2020

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Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

31 March 2020

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

31 March 2020

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A method and server for predicting damaging missense mutations

31 March 2020

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Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

31 March 2020

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A de novo paradigm for mental retardation.

31 March 2020

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Increased exonic de novo mutation rate in individuals with schizophrenia

31 March 2020

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

31 March 2020

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Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine

31 March 2020

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New Therapeutic Approaches to Mendelian Disorders

31 March 2020

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NT5E mutations and arterial calcifications

31 March 2020

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

31 March 2020

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

31 March 2020

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Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

31 March 2020

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

31 March 2020

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Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

31 March 2020

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Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age

31 March 2020

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Clinical assessment incorporating a personal genome

31 March 2020

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Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

31 March 2020

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The PAH gene, phenylketonuria, and a paradigm shift

31 March 2020

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Challenges in the clinical application of whole-genome sequencing

31 March 2020

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Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations

31 March 2020

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How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

31 March 2020

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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

31 March 2020

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Offering individual genetic research results: context matters

31 March 2020

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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

31 March 2020

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Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

31 March 2020

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Research ethics recommendations for whole-genome research: consensus statement

31 March 2020

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Managing incidental findings in human subjects research: analysis and recommendations

31 March 2020

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Disclosing individual genetic results to research participants

31 March 2020

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Charting a course for genomic medicine from base pairs to bedside

31 March 2020

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Multigene amplification and massively parallel sequencing for cancer mutation discovery

31 March 2020

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Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector

31 March 2020

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

31 March 2020

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Microarray-based genomic selection for high-throughput resequencing.

31 March 2020

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Multiplex amplification of large sets of human exons

31 March 2020

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Direct selection of human genomic loci by microarray hybridization

31 March 2020

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Massively parallel exon capture and library-free resequencing across 16 genomes

31 March 2020

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Methods for genomic partitioning

31 March 2020

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Genotype and SNP calling from next-generation sequencing data

31 March 2020

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Genome structural variation discovery and genotyping

31 March 2020

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Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

31 March 2020

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Uncovering the roles of rare variants in common disease through whole-genome sequencing

31 March 2020

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Extremes of unexplained variation as a phenotype: an efficient approach for genome-wide association studies of cardiovascular disease

31 March 2020

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Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

31 March 2020

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Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

31 March 2020

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An evaluation of statistical approaches to rare variant analysis in genetic association studies

31 March 2020

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Pooled association tests for rare variants in exon-resequencing studies

31 March 2020

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A groupwise association test for rare mutations using a weighted sum statistic

31 March 2020

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Statistical analysis strategies for association studies involving rare variants

31 March 2020

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

31 March 2020

1 reference

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

31 March 2020

1 reference

https://pubmed.ncbi.nlm.nih.gov/21946919

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Estimate of the mutation rate per nucleotide in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/21946919

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Carrier testing for severe childhood recessive diseases by next-generation sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/21946919

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

2 references

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30 April 2017

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1047038706

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1 reference

Consolidated OpenCitations Corpus – April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21946919

PubMed publication ID

2 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017