Developmental and temporal characteristics of clonal sperm mosaicism

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

(2021) Rachel E. Rodin et al.   NATURE NEUROSCIENCE

Landmarks of human embryonic development inscribed in somatic mutations

(2021) Sara Bizzotto et al.   SCIENCE

Tobacco smoking and somatic mutations in human bronchial epithelium

(2020) Kenichi Yoshida et al.   NATURE

Accurate detection of mosaic variants in sequencing data without matched controls

(2020) Yanmei Dou et al.   NATURE BIOTECHNOLOGY

The mutational landscape of normal human endometrial epithelium

(2020) Luiza Moore et al.   NATURE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Insights into variation in meiosis from 31,228 human sperm genomes

(2020) Avery Davis Bell et al.   NATURE

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

(2020) Alexander G. Bick et al.   NATURE

Replication timing and epigenome remodelling are associated with the nature of chromosomal rearrangements in cancer

(2019) Qian Du et al.   Nature Communications

Overlooked roles of DNA damage and maternal age in generating human germline mutations

(2019) Ziyue Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aging Human Hematopoietic Stem Cells Manifest Profound Epigenetic Reprogramming of Enhancers That May Predispose to Leukemia

(2019) Emmalee R Adelman et al.   Cancer Discovery

Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

(2019) Thomas A Sasani et al.   eLife

Clonal hematopoiesis in human aging and disease

(2019) Siddhartha Jaiswal et al.   SCIENCE

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

(2019) Martin W. Breuss et al.   NATURE MEDICINE

A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations

(2018) Adam Yongxin Ye et al.   GENOME RESEARCH

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis

(2018) Christopher Maximilian Arends et al.   LEUKEMIA

Strelka2: fast and accurate calling of germline and somatic variants

(2018) Sangtae Kim et al.   NATURE METHODS

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

(2018) Candace T. Myers et al.   NEW ENGLAND JOURNAL OF MEDICINE

DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants

(2018) Meng Wang et al.   NUCLEIC ACIDS RESEARCH

Paternally inherited cis-regulatory structural variants are associated with autism

(2018) William M. Brandler et al.   SCIENCE

Spermatogonial stem cells and spermatogenesis in mice, monkeys and men

(2018) Adetunji P. Fayomi et al.   Stem Cell Research

Quantitation of the cellular content of saliva and buccal swab samples

(2018) Christiane Theda et al.   Scientific Reports

Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs

(2018) August Yue Huang et al.   PLoS Genetics

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

(2018) Dimuthu Alankarage et al.   GENETICS IN MEDICINE

Mosaicism and incomplete penetrance of PCDH19 mutations

(2018) Aijie Liu et al.   JOURNAL OF MEDICAL GENETICS

Multiple transmissions of de novo mutations in families

(2018) Hákon Jónsson et al.   NATURE GENETICS

Somatic mutant clones colonize the human esophagus with age

(2018) Iñigo Martincorena et al.   SCIENCE

Familial co-occurrence of congenital heart defects follows distinct patterns

(2017) Sabrina G Ellesøe et al.   EUROPEAN HEART JOURNAL

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

(2017) Yanmei Dou et al.   HUMAN MUTATION

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

(2017) Hákon Jónsson et al.   NATURE

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

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

(2017) Taejeong Bae et al.   SCIENCE

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

(2017) Alexander H. Li et al.   Genome Medicine

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

(2017) Xiaoxu Yang et al.   Scientific Reports

Frequency and Complexity of De Novo Structural Mutation in Autism

(2016) William M. Brandler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

A spectral approach integrating functional genomic annotations for coding and noncoding variants

(2016) Iuliana Ionita-Laza et al.   NATURE GENETICS

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers

(2016) Meng Wang et al.   Scientific Reports

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Rapid method for the isolation of mammalian sperm DNA

(2015) Haotian Wu et al.   BIOTECHNIQUES

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Clock-like mutational processes in human somatic cells

(2015) Ludmil B Alexandrov et al.   NATURE GENETICS

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

The effects of chromatin organization on variation in mutation rates in the genome

(2015) Kateryna D. Makova et al.   NATURE REVIEWS GENETICS

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

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

(2015) I. Martincorena et al.   SCIENCE

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Changes in Nucleosome Occupancy Associated with Metabolic Alterations in Aged Mammalian Liver

(2014) Irina M. Bochkis et al.   Cell Reports

Somatic Mosaicism in the Human Genome

(2014) Donald Freed et al.   Genes

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

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

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

The replication rate of human hematopoietic stem cells in vivo

(2011) S. N. Catlin et al.   BLOOD

Determinants of nucleosome organization in primary human cells

(2011) Anton Valouev et al.   NATURE

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

Sequencing newly replicated DNA reveals widespread plasticity in human replication timing

(2009) R. S. Hansen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Of lineage and legacy: the development of mammalian hematopoietic stem cells

(2008) Elaine Dzierzak et al.   NATURE IMMUNOLOGY