Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing

Somatic mutation landscapes at single-molecule resolution

(2021) Federico Abascal et al.   NATURE

Family reunion via error correction: an efficient analysis of duplex sequencing data

(2020) Nicholas Stoler et al.   BMC BIOINFORMATICS

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

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

(2020) Konrad J. Karczewski et al.   NATURE

Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells

(2020) Irene Tiemann‐Boege et al.   FEBS Journal

Ultra-Sensitive TP53 Sequencing for Cancer Detection Reveals Progressive Clonal Selection in Normal Tissue over a Century of Human Lifespan

(2019) Jesse J. Salk et al.   Cell Reports

SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events

(2019) Erik N. Bergstrom et al.   BMC GENOMICS

A high-resolution landscape of mutations in the BCL6 super-enhancer in normal human B cells

(2019) Jiang-Cheng Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Extensive subclonal mutational diversity in human colorectal cancer and its significance

(2019) Lawrence A. Loeb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations

(2018) Jesse J. Salk et al.   NATURE REVIEWS GENETICS

Targeted genome fragmentation with CRISPR/Cas9 enables fast and efficient enrichment of small genomic regions and ultra-accurate sequencing with low DNA input (CRISPR-DS)

(2018) Daniela Nachmanson et al.   GENOME RESEARCH

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

(2018) Geoffrey J. Maher et al.   GENOME RESEARCH

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers

(2016) Norman Arnheim et al.   Annual Review of Genomics and Human Genetics

Artifactual mutations resulting from DNA lesions limit detection levels in ultrasensitive sequencing applications

(2016) Barbara Arbeithuber et al.   DNA RESEARCH

Ultra-deep sequencing detects ovarian cancer cells in peritoneal fluid and reveals somaticTP53mutations in noncancerous tissues

(2016) Jeffrey D. Krimmel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes

(2016) Geoffrey J. Maher et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

A Big Bang model of human colorectal tumor growth

(2015) Andrea Sottoriva et al.   NATURE GENETICS

Sequencing small genomic targets with high efficiency and extreme accuracy

(2015) Michael W Schmitt et al.   NATURE METHODS

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR

(2015) Hui Yang et al.   Nature Protocols

Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations

(2015) Mingkun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effects of increased paternal age on sperm quality, reproductive outcome and associated epigenetic risks to offspring

(2015) Rakesh Sharma et al.   Reproductive Biology and Endocrinology

Variation in cancer risk among tissues can be explained by the number of stem cell divisions

(2015) C. Tomasetti et al.   SCIENCE

Detecting ultralow-frequency mutations by Duplex Sequencing

(2014) Scott R Kennedy et al.   Nature Protocols

Dissemination of scientific software with Galaxy ToolShed

(2014) Daniel Blankenberg et al.   GENOME BIOLOGY

Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection

(2013) Song-Ro Yoon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia

(2013) Deepali N. Shinde et al.   HUMAN MOLECULAR GENETICS

Ageing of the male germ line

(2013) Catriona Paul et al.   Nature Reviews Urology

High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing

(2013) D. I. Lou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

(2013) E. Giannoulatou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autism Risk Across Generations

(2013) Emma M. Frans et al.   JAMA Psychiatry

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

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

Paternal age effect on age of onset in bipolar I disorder is mediated by sex and family history

(2012) Maria Grigoroiu-Serbanescu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Ras/MAPK syndromes and childhood hemato-oncological diseases

(2012) Yoko Aoki et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

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

(2012) Augustine Kong et al.   NATURE

Massively Parallel Haplotyping on Microscopic Beads for the High-Throughput Phase Analysis of Single Molecules

(2012) Jérôme Boulanger et al.   PLoS One

Detection of ultra-rare mutations by next-generation sequencing

(2012) M. W. Schmitt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Positive Selection for New Disease Mutations in the Human Germline: Evidence from the Heritable Cancer Syndrome Multiple Endocrine Neoplasia Type 2B

(2012) Soo-Kyung Choi et al.   PLoS Genetics

Upsetting the Dogma: Germline Selection in Human Males

(2012) James F. Crow   PLoS Genetics

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

Familial aggregation of schizophrenia: The moderating effect of age at onset, parental immigration, paternal age and season of birth

(2011) Anna C. Svensson et al.   SCANDINAVIAN JOURNAL OF PUBLIC HEALTH

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

(2010) C M Hultman et al.   MOLECULAR PSYCHIATRY

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

(2009) Anne Goriely et al.   NATURE GENETICS

Understanding what determines the frequency and pattern of human germline mutations

(2009) Norman Arnheim et al.   NATURE REVIEWS GENETICS

Advancing Paternal Age and Bipolar Disorder

(2008) Emma M. Frans et al.   ARCHIVES OF GENERAL PSYCHIATRY

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations

(2008) S.-K. Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA