Related references
Note: Only part of the references are listed.Accurate detection of mosaic variants in sequencing data without matched controls
Yanmei Dou et al.
NATURE BIOTECHNOLOGY (2020)
Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology
Weichen Zhou et al.
NUCLEIC ACIDS RESEARCH (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Resolving the full spectrum of human genome variation using Linked-Reads
Patrick Marks et al.
GENOME RESEARCH (2019)
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Mark J. P. Chaisson et al.
NATURE COMMUNICATIONS (2019)
Identification of somatic mutations in single cell DNA-seq using a spatial model of allelic imbalance
Lovelace J. Luquette et al.
NATURE COMMUNICATIONS (2019)
Aging and neurodegeneration are associated with increased mutations in single human neurons
Michael A. Lodato et al.
SCIENCE (2018)
Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis
Taejeong Bae et al.
SCIENCE (2018)
Strelka2: fast and accurate calling of germline and somatic variants
Sangtae Kim et al.
NATURE METHODS (2018)
Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations
Jesse J. Salk et al.
NATURE REVIEWS GENETICS (2018)
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
Po-Ru Loh et al.
NATURE (2018)
Computational tools to unmask transposable elements
Patricia Goerner-Potvin et al.
NATURE REVIEWS GENETICS (2018)
One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin
Alexej Abyzov et al.
GENOME RESEARCH (2017)
Accurate identification of single-nucleotide variants in whole-genome-amplified single cells
Xiao Dong et al.
NATURE METHODS (2017)
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
August Yue Huang et al.
NUCLEIC ACIDS RESEARCH (2017)
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
Michael J. McConnell et al.
SCIENCE (2017)
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
Xiaoxu Yang et al.
SCIENTIFIC REPORTS (2017)
Tissue-specific mutation accumulation in human adult stem cells during life
Francis Blokzijl et al.
NATURE (2016)
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
Grace X. Y. Zheng et al.
NATURE BIOTECHNOLOGY (2016)
Reference-based phasing using the Haplotype Reference Consortium panel
Po-Ru Loh et al.
NATURE GENETICS (2016)
L1-associated genomic regions are deleted in somatic cells of the healthy human brain
Jennifer A. Erwin et al.
NATURE NEUROSCIENCE (2016)
The Contribution of Mosaic Variants to Autism Spectrum Disorder
Donald Freed et al.
PLOS GENETICS (2016)
The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts
Natalie Saini et al.
PLOS GENETICS (2016)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Cell Lineage Analysis in Human Brain Using Endogenous Retroelements
Gilad D. Evrony et al.
NEURON (2015)
Somatic mutation in single human neurons tracks developmental and transcriptional history
Michael A. Lodato et al.
SCIENCE (2015)
PEAR: a fast and accurate Illumina Paired-End reAd mergeR
Jiajie Zhang et al.
BIOINFORMATICS (2014)
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
Justin M. Zook et al.
NATURE BIOTECHNOLOGY (2014)
Detecting ultralow-frequency mutations by Duplex Sequencing
Scott R. Kennedy et al.
NATURE PROTOCOLS (2014)
Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain
Xuyu Cai et al.
CELL REPORTS (2014)
Mosaic Copy Number Variation in Human Neurons
Michael J. McConnell et al.
SCIENCE (2013)
Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain
Gilad D. Evrony et al.
CELL (2012)
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
Daniel C. Koboldt et al.
GENOME RESEARCH (2012)
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
Alexej Abyzov et al.
NATURE (2012)
Detectable clonal mosaicism and its relationship to aging and cancer
Kevin B. Jacobs et al.
NATURE GENETICS (2012)
Detectable clonal mosaicism from birth to old age and its relationship to cancer
Cathy C. Laurie et al.
NATURE GENETICS (2012)
Primer3-new capabilities and interfaces
Andreas Untergasser et al.
NUCLEIC ACIDS RESEARCH (2012)
Extensive genetic variation in somatic human tissues
Maeve O'Huallachain et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Detection of ultra-rare mutations by next-generation sequencing
Michael W. Schmitt et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
FLASH: fast length adjustment of short reads to improve genome assemblies
Tanja Magoc et al.
BIOINFORMATICS (2011)
Somatic retrotransposition alters the genetic landscape of the human brain
J. Kenneth Baillie et al.
NATURE (2011)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
Carl E. G. Bruder et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
BatchPrimer3: A high throughput web application for PCR and sequencing primer design
Frank M. You et al.
BMC BIOINFORMATICS (2008)
Somatic mosaicism for copy number variation in differentiated human tissues
Arkadiusz Piotrowski et al.
HUMAN MUTATION (2008)
BLAT - The BLAST-like alignment tool
WJ Kent
GENOME RESEARCH (2002)
Share Paper
