(Q28397138)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

main subject

cell biology

0 references

whole genome sequencing

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Adam Yongxin Ye

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Linlin Yan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

19

Yuehua Zhang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

author name string

Xiaojing Xu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Qixi Wu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Boxun Zhao

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Xiaoxu Yang

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Yao He

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Sheng Wang

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Zheng Zhang

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Bowen Gu

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Han-Qing Zhao

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Meng Wang

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Hua Gao

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Ge Gao

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Zhichao Zhang

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Xiaoling Yang

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Xiru Wu

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Liping Wei

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

language of work or name

English

0 references

publication date

14 October 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

page(s)

1311-1327

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

21 February 2020

copyright license

start time

14 October 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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Somatic mutation, genomic variation, and neurological disease

19 March 2017

1 reference

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Mutational heterogeneity in cancer and the search for new cancer-associated genes

19 March 2017

1 reference

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Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Mutational processes molding the genomes of 21 breast cancers

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Detectable clonal mosaicism and its relationship to aging and cancer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Detectable clonal mosaicism from birth to old age and its relationship to cancer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

A map of human genome variation from population-scale sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Analysis of next-generation genomic data in cancer: accomplishments and challenges

19 March 2017

1 reference

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Evolution of the mutation rate

19 March 2017

1 reference

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A method and server for predicting damaging missense mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Fast and accurate short read alignment with Burrows-Wheeler transform

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Maternal microchimerism in healthy adults in lymphocytes, monocyte/macrophages and NK cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Mechanisms and consequences of somatic mosaicism in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

BLAT—The BLAST-Like Alignment Tool

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

A simple salting out procedure for extracting DNA from human nucleated cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Benchmarking of mutation diagnostics in clinical lung cancer specimens

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Somatic retrotransposition alters the genetic landscape of the human brain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Computational approaches to identify functional genetic variants in cancer genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Single-cell sequencing-based technologies will revolutionize whole-organism science

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Genetics. Genome mosaicism--one human, multiple genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

A genomic view of mosaicism and human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

An empirical Bayesian framework for somatic mutation detection from cancer genome sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

LoFreq: a sequence-quality aware, ultra-sensitive variant caller for uncovering cell-population heterogeneity from high-throughput sequencing datasets

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Extensive genetic variation in somatic human tissues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

De novo mutations in human genetic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

The UCSC Genome Browser database: extensions and updates 2011.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Genotype and SNP calling from next-generation sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Somatic mosaicism in healthy human tissues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

The genetics of Dravet syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Genome structural variation discovery and genotyping

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Somatic gene mutation and human disease other than cancer: an update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

A functional null mutation of SCN1B in a patient with Dravet syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Insertional mutagenesis and clonal dominance: biological and statistical considerations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Maternal microchimerism in peripheral blood in type 1 diabetes and pancreatic islet beta cell microchimerism.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Somatic activation of AKT3 causes hemispheric developmental brain malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

2 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2014.131

Finding new structural and sequence attributes to predict possible disease association of single amino acid polymorphism (SAP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2014.131

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2014.131

The SCN1A variant database: a novel research and diagnostic tool.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2014.131

Genome sequencing of normal cells reveals developmental lineages and mutational processes

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220156

Buccal swabs but not mouthwash samples can be used to obtain pretransplant DNA fingerprints from recipients of allogeneic bone marrow transplants

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25312340

12 December 2020

inferred from PubMed ID database lookup

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25312340

12 December 2020

inferred from PubMed ID database lookup

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25312340

12 December 2020

inferred from PubMed ID database lookup

IntOGen-mutations identifies cancer drivers across tumor types.

1 reference

https://api.crossref.org/works/10.1038%2FCR.2014.131

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/CR.2014.131

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25312340%20AND%20SRC:MED&resulttype=core&format=json