Characterization of de novo Mutations in the Human Germline

No abstract is available for this paper.

• Publication year

  2019

• Venue

  Unknown venue

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers

  No identifiers available.

• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Faculty Opinions recommendation of Disorders of spermatogenesis: Perspectives for novel genetic diagnostics after 20 years of unchanged routine.

  2018cited by this paper
• The adult human testis transcriptional cell atlas

  2018cited by this paper
• A characterization of postzygotic mutations identified in monozygotic twins

  2018cited by this paper
• Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing

  2018cited by this paper
• Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis

  2018cited by this paper
• Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate Transition during Human Spermatogenesis.

  2018cited by this paper
• Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations

  2018cited by this paper
• Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs

  2018cited by this paper
• Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

  2018cited by this paper
• Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

  2018cited by this paper
• Overlooked roles of DNA damage and maternal age in generating human germline mutations

  2018cited by this paper
• Reproductive longevity predicts mutation rates in primates

  2018cited by this paper
• Multiple transmissions of de novo mutations in families

  2018cited by this paper
• Detecting Somatic Mutations in Normal Cells.

  2018cited by this paper
• Staged developmental mapping and X chromosome transcriptional dynamics during mouse spermatogenesis

  2018cited by this paper
• Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder

  2017cited by this paper
• Error-prone bypass of DNA lesions during lagging strand replication is a common source of germline and cancer mutations

  2017cited by this paper
• Genomic Patterns of De Novo Mutation in Simplex Autism.

  2017influential reference
• International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

  2017cited by this paper
• Discovery and genotyping of structural variation from long-read haploid genome sequence data

  2017cited by this paper
• Quantification of autism recurrence risk by direct assessment of paternal sperm mosaicism

  2017cited by this paper
• Utilitarianism as an Approach to Ethical Decision Making in Health Care

  2017cited by this paper
• rptR: repeatability estimation and variance decomposition by generalized linear mixed‐effects models

  2017cited by this paper
• Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.

  2017cited by this paper
• Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

  2017cited by this paper
• Isolation and whole genome sequencing of fetal cells from maternal blood towards the ultimate non‐invasive prenatal testing

  2017cited by this paper
• Paternal-age-related de novo mutations and risk for five disorders

  2017cited by this paper
• Differences between germline and somatic mutation rates in humans and mice

  2017cited by this paper
• Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

  2017cited by this paper
• A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

  2017cited by this paper
• Why Batch Effects Matter in Omics Data, and How to Avoid Them.

  2017cited by this paper
• Unraveling transcriptome dynamics in human spermatogenesis

  2017cited by this paper
• Clustered Mutation Signatures Reveal that Error-Prone DNA Repair Targets Mutations to Active Genes.

  2017cited by this paper
• Parental influence on human germline de novo mutations in 1,548 trios from Iceland

  2017cited by this paper
• New observations on maternal age effect on germline de novo mutations

  2016cited by this paper
• RASopathies: Presentation at the Genome, Interactome, and Phenome Levels

  2016cited by this paper
• New insights into the generation and role of de novo mutations in health and disease

  2016cited by this paper
• Specification and epigenetic programming of the human germ line

  2016cited by this paper
• Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

  2016cited by this paper
• Spermatogenesis in humans and its affecting factors.

  2016cited by this paper
• Differences in the rare variant spectrum among human populations

  2016cited by this paper
• Striking differences in patterns of germline mutation between mice and humans

  2016influential reference
• An Incomplete Understanding of Human Genetic Variation

  2016cited by this paper
• Older fathers' children have lower evolutionary fitness across four centuries and in four populations

  2016cited by this paper
• Control of Meiotic Crossovers: From Double-Strand Break Formation to Designation.

  2016cited by this paper
• Loss of BRCA1 or BRCA2 markedly increases the rate of base substitution mutagenesis and has distinct effects on genomic deletions

  2016cited by this paper
• Organization and function of the 3D genome

  2016cited by this paper
• Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

  2016cited by this paper
• Variation in the molecular clock of primates

  2016cited by this paper
• Clinical delineation of the PACS1‐related syndrome—Report on 19 patients

  2016cited by this paper
• Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends

  2016cited by this paper
• Multi-nucleotide de novo Mutations in Humans

  2016cited by this paper
• The rate of meiotic gene conversion varies by sex and age

  2016influential reference
• The Contribution of Mosaic Variants to Autism Spectrum Disorder

  2016cited by this paper
• Rapid evolution of the human mutation spectrum

  2016cited by this paper
• Novel bioinformatic developments for exome sequencing

  2016cited by this paper
• Do DNA Double-Strand Breaks Drive Aging?

  2016cited by this paper
• Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

  2016cited by this paper
• Genome analysis MutationalPatterns : an integrative R package for studying patterns in base substitution catalogues

  2016cited by this paper
• Genome-wide characteristics of de novo mutations in autism

  2016cited by this paper
• Non-canonical actions of mismatch repair.

  2016cited by this paper
• DNA methylation on N 6 -adenine in mammalian embryonic stem cells

  2016cited by this paper
• Faculty Opinions recommendation of Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates.

  2016cited by this paper
• Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

  2016cited by this paper
• Parent-of-origin-specific signatures of de novo mutations

  2016influential reference
• A review of the mechanisms and evidence for typical and atypical twinning.

  2016cited by this paper
• Evidence for recent, population-specific evolution of the human mutation rate

  2015cited by this paper
• Clock-like mutational processes in human somatic cells

  2015cited by this paper
• Crossovers are associated with mutation and biased gene conversion at recombination hotspots

  2015cited by this paper
• Elevated germline mutation rate in teenage fathers

  2015cited by this paper
• Mutation rates and the evolution of germline structure

  2015cited by this paper
• Design and Analysis of Single-Cell Sequencing Experiments.

  2015cited by this paper
• Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis

  2015cited by this paper
• Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

  2015cited by this paper
• Meiosis and maternal aging: insights from aneuploid oocytes and trisomy births.

  2015cited by this paper
• Understanding the Basics of NGS: From Mechanism to Variant Calling

  2015cited by this paper
• BRCA Mutations, DNA Repair Deficiency, and Ovarian Aging1

  2015cited by this paper
• Integrative analysis of 111 reference human epigenomes

  2015cited by this paper
• Concurrent whole-genome haplotyping and copy-number profiling of single cells.

  2015cited by this paper
• Influence of ejaculation frequency on seminal parameters

  2015cited by this paper
• Dynamic stem cell heterogeneity

  2015cited by this paper
• The effects of chromatin organization on variation in mutation rates in the genome

  2015cited by this paper
• Genetic studies in intellectual disability and related disorders

  2015cited by this paper
• regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests

  2015cited by this paper
• The origins, determinants, and consequences of human mutations

  2015cited by this paper
• Genetic Mosaics and the Germ Line Lineage

  2015cited by this paper
• Mosaic mutations in early-onset genetic diseases

  2015cited by this paper
• G&T-seq: parallel sequencing of single-cell genomes and transcriptomes

  2015cited by this paper
• Clusters of Multiple Mutations: Incidence and Molecular Mechanisms.

  2015cited by this paper
• Timing, rates and spectra of human germline mutation

  2015cited by this paper
• AID expression in B-cell lymphomas causes accumulation of genomic uracil and a distinct AID mutational signature.

  2015cited by this paper
• Incidence of infertility and risk factors of impaired fecundity among newly married couples in a Chinese population.

  2015cited by this paper
• Characteristics of de novo structural changes in the human genome

  2015cited by this paper
• Molecular insights into the aetiology of female reproductive ageing

  2015cited by this paper
• Cohort Profile Cohort Profile : Estonian Biobank of the Estonian Genome Center , University of Tartu

  2015cited by this paper
• Life history effects on the molecular clock of autosomes and sex chromosomes

  2015cited by this paper
• Big Data: Astronomical or Genomical?

  2015cited by this paper
• Parallel WGA and WTA for Comparative Genome and Transcriptome NGS Analysis Using Tiny Cell Numbers

  2015cited by this paper
• Interpreting the Dependence of Mutation Rates on Age and Time

  2015cited by this paper
• Multicohort analysis of the maternal age effect on recombination

  2015cited by this paper

• Revisiting the neutral dynamics derived limiting guanine-cytosine content using human de novo point mutation data

  2020cites this paper