- Home
- Publications
- Publication Search
- Publication Details
Title
Discovery of genomic variation across a generation
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume -, Issue -, Pages -
Publisher
Oxford University Press (OUP)
Online
2021-07-20
DOI
10.1093/hmg/ddab209
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Patterns of de novo tandem repeat mutations and their role in autism
- (2021) Ileena Mitra et al. NATURE
- Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
- (2021) Jun Takayama et al. Nature Communications
- De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
- (2021) Jonathan R. Belyeu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation
- (2021) Peter Ebert et al. SCIENCE
- 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
- (2021) Christel Depienne et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
- (2021) Xuefang Zhao et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The structure, function and evolution of a complete human chromosome 8
- (2021) Glennis A. Logsdon et al. NATURE
- Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
- (2021) Doruk Beyter et al. NATURE GENETICS
- Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident
- (2021) Meredith Yeager et al. SCIENCE
- A Population-Specific Major Allele Reference Genome From The United Arab Emirates Population
- (2021) Gihan Daw Elbait et al. Frontiers in Genetics
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
- (2020) F. Kyle Satterstrom et al. CELL
- Pan-genomics in the human genome era
- (2020) Rachel M. Sherman et al. NATURE REVIEWS GENETICS
- The 27th annual Nucleic Acids Research database issue and molecular biology database collection
- (2020) Daniel J Rigden et al. NUCLEIC ACIDS RESEARCH
- De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population
- (2020) Michael D. Kessler et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
- (2020) Yun Rose Li et al. Nature Communications
- A structural variation reference for medical and population genetics
- (2020) Ryan L. Collins et al. NATURE
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Mapping and characterization of structural variation in 17,795 human genomes
- (2020) Haley J. Abel et al. NATURE
- Integrated multi-omics approaches to improve classification of chronic kidney disease
- (2020) Sean Eddy et al. Nature Reviews Nephrology
- Multilevel omics for the discovery of biomarkers and therapeutic targets for stroke
- (2020) Joan Montaner et al. Nature Reviews Neurology
- Insights into human genetic variation and population history from 929 diverse genomes
- (2020) Anders Bergström et al. SCIENCE
- Korean Genome Project: 1094 Korean personal genomes with clinical information
- (2020) Sungwon Jeon et al. Science Advances
- Genome-wide detection of tandem DNA repeats that are expanded in autism
- (2020) Brett Trost et al. NATURE
- Whole-genome sequencing of patients with rare diseases in a national health system
- (2020) Ernest Turro et al. NATURE
- Telomere-to-telomere assembly of a complete human X chromosome
- (2020) Karen H. Miga et al. NATURE
- A robust benchmark for detection of germline large deletions and insertions
- (2020) Justin M. Zook et al. NATURE BIOTECHNOLOGY
- Children’s rare disease cohorts: an integrative research and clinical genomics initiative
- (2020) Shira Rockowitz et al. npj Genomic Medicine
- Integrating genetic and non-genetic determinants of cancer evolution by single-cell multi-omics
- (2020) Anna S. Nam et al. NATURE REVIEWS GENETICS
- Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases
- (2020) Caio Robledo D'Angioli Costa Quaio et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals
- (2020) Jan Higgins et al. HUMAN MUTATION
- Characterizing the Major Structural Variant Alleles of the Human Genome
- (2019) Peter A. Audano et al. CELL
- Resolving the full spectrum of human genome variation using Linked-Reads
- (2019) Patrick Marks et al. GENOME RESEARCH
- Keeping up with the genomes: scaling genomic variant interpretation
- (2019) Heidi L. Rehm et al. Genome Medicine
- The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
- (2018) Miriam S. Reuter et al. CANADIAN MEDICAL ASSOCIATION JOURNAL
- Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure
- (2018) Nguyen Dang Ton et al. HUMAN MUTATION
- Nanopore sequencing and assembly of a human genome with ultra-long reads
- (2018) Miten Jain et al. NATURE BIOTECHNOLOGY
- The genome of the offspring of a Neanderthal mother and a Denisovan father
- (2018) Viviane Slon et al. NATURE
- Assembly of a pan-genome from deep sequencing of 910 humans of African descent
- (2018) Rachel M. Sherman et al. NATURE GENETICS
- Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
- (2018) Joon-Yong An et al. SCIENCE
- The Evolving Definition of the Term “Gene”
- (2017) Petter Portin et al. GENETICS
- Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- (2017) Valerie A. Schneider et al. GENOME RESEARCH
- Direct determination of diploid genome sequences
- (2017) Neil I. Weisenfeld et al. GENOME RESEARCH
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
- (2017) Peter D. Stenson et al. HUMAN GENETICS
- Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing
- (2017) Makiko Horai et al. JOURNAL OF HUMAN GENETICS
- Parental influence on human germline de novo mutations in 1,548 trios from Iceland
- (2017) Hákon Jónsson et al. NATURE
- Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
- (2017) Lasse Maretty et al. NATURE
- DNA sequencing at 40: past, present and future
- (2017) Jay Shendure et al. NATURE
- Single-cell template strand sequencing by Strand-seq enables the characterization of individual homologs
- (2017) Ashley D Sanders et al. Nature Protocols
- The Evolving Definition of the Term “Gene”
- (2017) Petter Portin et al. GENETICS
- Characterizing polymorphic inversions in human genomes by single-cell sequencing
- (2016) Ashley D. Sanders et al. GENOME RESEARCH
- A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
- (2016) Michael A. Eberle et al. GENOME RESEARCH
- De novo assembly and phasing of a Korean human genome
- (2016) Jeong-Sun Seo et al. NATURE
- The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
- (2016) Swapan Mallick et al. NATURE
- Parent-of-origin-specific signatures of de novo mutations
- (2016) Jakob M Goldmann et al. NATURE GENETICS
- Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
- (2016) Christian R Marshall et al. NATURE GENETICS
- Deep sequencing of 10,000 human genomes
- (2016) Amalio Telenti et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- New observations on maternal age effect on germline de novo mutations
- (2016) Wendy S. W. Wong et al. Nature Communications
- Long-read sequencing and de novo assembly of a Chinese genome
- (2016) Lingling Shi et al. Nature Communications
- The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes
- (2016) Qing Mao et al. GigaScience
- Genome-wide characteristics of de novo mutations in autism
- (2016) Ryan KC Yuen et al. npj Genomic Medicine
- Human Genome Project: Twenty-five years of big biology
- (2015) Eric D. Green et al. NATURE
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Genome-wide patterns and properties of de novo mutations in humans
- (2015) Laurent C Francioli et al. NATURE GENETICS
- Large-scale whole-genome sequencing of the Icelandic population
- (2015) Daniel F Gudbjartsson et al. NATURE GENETICS
- Assembly and diploid architecture of an individual human genome via single-molecule technologies
- (2015) Matthew Pendleton et al. NATURE METHODS
- A copy number variation map of the human genome
- (2015) Mehdi Zarrei et al. NATURE REVIEWS GENETICS
- Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
- (2015) Nuala A. O'Leary et al. NUCLEIC ACIDS RESEARCH
- A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
- (2015) Neil A. Miller et al. Genome Medicine
- An Opportune Life: 50 Years in Human Cytogenetics
- (2014) Patricia A. Jacobs Annual Review of Genomics and Human Genetics
- DNA replication timing: Coordinating genome stability with genome regulation on the X chromosome and beyond
- (2014) Amnon Koren BIOESSAYS
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli et al. NATURE GENETICS
- The role of de novo mutations in the genetics of autism spectrum disorders
- (2014) Michael Ronemus et al. NATURE REVIEWS GENETICS
- The complete genome sequence of a Neanderthal from the Altai Mountains
- (2013) Kay Prüfer et al. NATURE
- The Database of Genomic Variants: a curated collection of structural variation in the human genome
- (2013) Jeffrey R. MacDonald et al. NUCLEIC ACIDS RESEARCH
- Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum
- (2013) Andy Wing Chun Pang et al. G3-Genes Genomes Genetics
- In depth comparison of an individual’s DNA and its lymphoblastoid cell line using whole genome sequencing
- (2012) Dorothee Nickles et al. BMC GENOMICS
- Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
- (2012) Jacob J. Michaelson et al. CELL
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- Estimating the human mutation rate using autozygosity in a founder population
- (2012) Catarina D Campbell et al. NATURE GENETICS
- De novo mutations in human genetic disease
- (2012) Joris A. Veltman et al. NATURE REVIEWS GENETICS
- A High-Coverage Genome Sequence from an Archaic Denisovan Individual
- (2012) M. Meyer et al. SCIENCE
- Initial impact of the sequencing of the human genome
- (2011) Eric S. Lander NATURE
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
- (2011) Dalila Pinto et al. NATURE BIOTECHNOLOGY
- Variation in genome-wide mutation rates within and between human families
- (2011) Donald F Conrad et al. NATURE GENETICS
- Personal genome sequencing: current approaches and challenges
- (2010) M. Snyder et al. GENES & DEVELOPMENT
- De novo rates and selection of large copy number variation
- (2010) A. Itsara et al. GENOME RESEARCH
- A window into third-generation sequencing
- (2010) E. E. Schadt et al. HUMAN MOLECULAR GENETICS
- Complete Khoisan and Bantu genomes from southern Africa
- (2010) Stephan C. Schuster et al. NATURE
- Human genome at ten: Science after the sequence
- (2010) Declan Butler NATURE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Public data archives for genomic structural variation
- (2010) Deanna M Church et al. NATURE GENETICS
- The Archon Genomics X PRIZE for whole human genome sequencing
- (2010) Larry Kedes et al. NATURE GENETICS
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- Towards a comprehensive structural variation map of an individual human genome
- (2010) Andy W Pang et al. GENOME BIOLOGY
- Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses
- (2009) Antonino Forabosco et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
- (2009) K. J. McKernan et al. GENOME RESEARCH
- A highly annotated whole-genome sequence of a Korean individual
- (2009) Jong-Il Kim et al. NATURE
- Personalized copy number and segmental duplication maps using next-generation sequencing
- (2009) Can Alkan et al. NATURE GENETICS
- Single-nucleotide discrimination in immobilized DNA oligonucleotides with a biological nanopore
- (2009) D. Stoddart et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
- (2009) R. Drmanac et al. SCIENCE
- Contemplating effects of genomic structural variation
- (2008) Janet A Buchanan et al. GENETICS IN MEDICINE
- The complete genome of an individual by massively parallel DNA sequencing
- (2008) David A. Wheeler et al. NATURE
- The diploid genome sequence of an Asian individual
- (2008) Jun Wang et al. NATURE
- Genotype, haplotype and copy-number variation in worldwide human populations
- (2008) Mattias Jakobsson et al. NATURE
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
- Real-Time DNA Sequencing from Single Polymerase Molecules
- (2008) J. Eid et al. SCIENCE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started