(Q88582770)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29731376%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

title

Detecting Somatic Mutations in Normal Cells (English)

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25 March 2020

2

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25 March 2020

author name string

Yanmei Dou

series ordinal

1

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25 March 2020

Lovelace J Luquette

series ordinal

3

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25 March 2020

Peter J Park

series ordinal

4

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25 March 2020

publication date

3 May 2018

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25 March 2020

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25 March 2020

volume

34

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25 March 2020

issue

7

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25 March 2020

page(s)

545-557

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Preferential PCR amplification of alleles: mechanisms and solutions

25 March 2020

cites work

1 reference

12 December 2020

Fidelity of DNA polymerases in DNA amplification

1 reference

12 December 2020

Cytosine deamination plays a primary role in the evolution of mammalian isochores

1 reference

12 December 2020

dbSNP: the NCBI database of genetic variation

1 reference

12 December 2020

UV-induced DNA damage and repair: a review

1 reference

12 December 2020

Oxidative DNA damage and disease: induction, repair and significance

1 reference

12 December 2020

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

1 reference

12 December 2020

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

1 reference

12 December 2020

Inferring combined CNV/SNP haplotypes from genotype data

1 reference

12 December 2020

Evolution of the mutation rate

1 reference

12 December 2020

A map of human genome variation from population-scale sequencing

1 reference

12 December 2020

Tumour evolution inferred by single-cell sequencing

1 reference

12 December 2020

Sequence-specific error profile of Illumina sequencers

1 reference

12 December 2020

CREST maps somatic structural variation in cancer genomes with base-pair resolution.

1 reference

12 December 2020

ContEst: estimating cross-contamination of human samples in next-generation sequencing data

1 reference

12 December 2020

Haplotype phasing: existing methods and new developments

1 reference

12 December 2020

Identification and correction of systematic error in high-throughput sequence data

1 reference

12 December 2020

Repetitive DNA and next-generation sequencing: computational challenges and solutions

1 reference

12 December 2020

A linear complexity phasing method for thousands of genomes

1 reference

12 December 2020

Efficient de novo assembly of large genomes using compressed data structures

1 reference

12 December 2020

De novo assembly and genotyping of variants using colored de Bruijn graphs

1 reference

12 December 2020

Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

PurityEst: estimating purity of human tumor samples using next-generation sequencing data

1 reference

12 December 2020

Landscape of somatic retrotransposition in human cancers

1 reference

12 December 2020

The origin and evolution of mutations in acute myeloid leukemia

1 reference

12 December 2020

Detection of ultra-rare mutations by next-generation sequencing

1 reference

12 December 2020

DELLY: structural variant discovery by integrated paired-end and split-read analysis

1 reference

12 December 2020

A survey of copy-number variation detection tools based on high-throughput sequencing data.

1 reference

12 December 2020

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

1 reference

12 December 2020

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data

1 reference

12 December 2020

An integrated map of genetic variation from 1,092 human genomes

1 reference

12 December 2020

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

1 reference

12 December 2020

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

1 reference

12 December 2020

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

1 reference

12 December 2020

Single-cell paired-end genome sequencing reveals structural variation per cell cycle

1 reference

12 December 2020

Diverse mechanisms of somatic structural variations in human cancer genomes

1 reference

12 December 2020

Characterizing and measuring bias in sequence data

1 reference

12 December 2020

Discovering motifs that induce sequencing errors

1 reference

12 December 2020

PCR-induced transitions are the major source of error in cleaned ultra-deep pyrosequencing data

1 reference

12 December 2020

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

1 reference

12 December 2020

Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer

1 reference

12 December 2020

Virmid: accurate detection of somatic mutations with sample impurity inference

1 reference

12 December 2020

Absolute quantification by droplet digital PCR versus analog real-time PCR.

1 reference

12 December 2020

Systematic investigation of cancer-associated somatic point mutations in SNP databases

1 reference

12 December 2020

Emerging patterns of somatic mutations in cancer

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12 December 2020

Haplotype estimation using sequencing reads

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12 December 2020

Mosaic copy number variation in human neurons

1 reference

12 December 2020

Multiplexed target detection using DNA-binding dye chemistry in droplet digital PCR.

1 reference

12 December 2020

The role of replicates for error mitigation in next-generation sequencing

1 reference

12 December 2020

Sequencing depth and coverage: key considerations in genomic analyses

1 reference

12 December 2020

Whole-genome haplotyping using long reads and statistical methods

1 reference

12 December 2020

Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing

1 reference

12 December 2020

Mechanisms underlying mutational signatures in human cancers

1 reference

12 December 2020

Genome sequencing of normal cells reveals developmental lineages and mutational processes

1 reference

12 December 2020

Clonal evolution in breast cancer revealed by single nucleus genome sequencing.

1 reference

12 December 2020

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

1 reference

12 December 2020

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

1 reference

12 December 2020

Cell lineage analysis in human brain using endogenous retroelements.

1 reference

12 December 2020

Generation of cloned mice from adult neurons by direct nuclear transfer.

1 reference

12 December 2020

Haplotype phasing and inheritance of copy number variants in nuclear families

1 reference

12 December 2020

Somatic mosaicism: implications for disease and transmission genetics

1 reference

12 December 2020

Haplotype-resolved genome sequencing: experimental methods and applications

1 reference

12 December 2020

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

1 reference

12 December 2020

Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection

1 reference

12 December 2020

Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin

1 reference

12 December 2020

Chromothripsis from DNA damage in micronuclei.

1 reference

12 December 2020

Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications

1 reference

12 December 2020

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome

1 reference

12 December 2020

Discriminating somatic and germline mutations in tumor DNA samples without matching normals

1 reference

12 December 2020

Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data

1 reference

12 December 2020

Comparison of variations detection between whole-genome amplification methods used in single-cell resequencing

1 reference

12 December 2020

Somatic mutation in cancer and normal cells

1 reference

12 December 2020

Ultra-fast local-haplotype variant calling using paired-end DNA-sequencing data reveals somatic mosaicism in tumor and normal blood samples

1 reference

12 December 2020

Somatic mutation in single human neurons tracks developmental and transcriptional history

1 reference

12 December 2020

An integrated map of structural variation in 2,504 human genomes

1 reference

12 December 2020

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

1 reference

12 December 2020

Timing, rates and spectra of human germline mutation

1 reference

12 December 2020

Systematic discovery of complex insertions and deletions in human cancers.

1 reference

12 December 2020

Single-cell genome sequencing: current state of the science

1 reference

12 December 2020

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

1 reference

12 December 2020

Structural variation detection using next-generation sequencing data: A comparative technical review.

1 reference

12 December 2020

Resolving rates of mutation in the brain using single-neuron genomics

1 reference

12 December 2020

The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning

1 reference

12 December 2020

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research

1 reference

12 December 2020

Validation and Application of a Custom-Designed Targeted Next-Generation Sequencing Panel for the Diagnostic Mutational Profiling of Solid Tumors

1 reference

12 December 2020

Conpair: concordance and contamination estimator for matched tumor-normal pairs

1 reference

12 December 2020

Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing

1 reference

12 December 2020

The Contribution of Mosaic Variants to Autism Spectrum Disorder

1 reference

12 December 2020

Tissue-specific mutation accumulation in human adult stem cells during life

1 reference

12 December 2020

De novo assembly and phasing of a Korean human genome.

1 reference

12 December 2020

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

1 reference

12 December 2020

MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples

1 reference

12 December 2020

Sequencing thousands of single-cell genomes with combinatorial indexing.

1 reference

12 December 2020

DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification.

1 reference

12 December 2020

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin.

1 reference

12 December 2020

Accurate identification of single-nucleotide variants in whole-genome-amplified single cells

1 reference

12 December 2020

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

1 reference

12 December 2020

NGSCheckMate: software for validating sample identity in next-generation sequencing studies within and across data types.

1 reference

12 December 2020

Direct determination of diploid genome sequences

1 reference

12 December 2020

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

1 reference

12 December 2020

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.

1 reference

12 December 2020

Single-cell genome sequencing at ultra-high-throughput with microfluidic droplet barcoding.

1 reference

12 December 2020

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

1 reference

12 December 2020

Detection of structural mosaicism from targeted and whole-genome sequencing data

1 reference

12 December 2020

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

1 reference

12 December 2020

Universal Patterns of Selection in Cancer and Somatic Tissues

1 reference

12 December 2020

Aging and neurodegeneration are associated with increased mutations in single human neurons.

1 reference

12 December 2020

Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.

1 reference

12 December 2020

10.1016/J.TIG.2018.04.003

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29731376%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

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25 March 2020

1 reference