Characterizing mutagenic effects of recombination through a sequence-level genetic map

Single-Cell Chromatin Modification Profiling Reveals Increased Epigenetic Variations with Aging

(2018) Peggie Cheung et al.   CELL

PRDM9 and Its Role in Genetic Recombination

(2018) Kenneth Paigen et al.   TRENDS IN GENETICS

PRDM9 interactions with other proteins provide a link between recombination hotspots and the chromosomal axis in meiosis

(2017) Emil D. Parvanov et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2017) Hákon Jónsson et al.   NATURE

Graphtyper enables population-scale genotyping using pangenome graphs

(2017) Hannes P Eggertsson et al.   NATURE GENETICS

Refined genetic maps reveal sexual dimorphism in human meiotic recombination at multiple scales

(2017) Claude Bhérer et al.   Nature Communications

A map of human PRDM9 binding provides evidence for novel behaviors of PRDM9 and other zinc-finger proteins in meiosis

(2017) Nicolas Altemose et al.   eLife

Whole genome characterization of sequence diversity of 15,220 Icelanders

(2017) Hákon Jónsson et al.   Scientific Data

Control of Meiotic Crossovers: From Double-Strand Break Formation to Designation

(2016) Stephen Gray et al.   Annual Review of Genetics

The Landscape of Mouse Meiotic Double-Strand Break Formation, Processing, and Repair

(2016) Julian Lange et al.   CELL

Parent-of-origin-specific signatures of de novo mutations

(2016) Jakob M Goldmann et al.   NATURE GENETICS

The rate of meiotic gene conversion varies by sex and age

(2016) Bjarni V Halldorsson et al.   NATURE GENETICS

Weighting sequence variants based on their annotation increases power of whole-genome association studies

(2016) Gardar Sveinbjornsson et al.   NATURE GENETICS

Regulating the construction and demolition of the synaptonemal complex

(2016) Cori K Cahoon et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

H2B ubiquitination regulates meiotic recombination by promoting chromatin relaxation

(2016) Zhiliang Xu et al.   NUCLEIC ACIDS RESEARCH

The TopoVIB-Like protein family is required for meiotic DNA double-strand break formation

(2016) T. Robert et al.   SCIENCE

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility

(2016) Laura Gómez-H et al.   Nature Communications

Epigenetic and genetic components of height regulation

(2016) Stefania Benonisdottir et al.   Nature Communications

Regulating the construction and demolition of the synaptonemal complex

(2016) Cori K Cahoon et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Meiotic Recombination Activator PRDM9 Trimethylates Both H3K36 and H3K4 at Recombination Hotspots In Vivo

(2016) Natalie R. Powers et al.   PLoS Genetics

Multi-nucleotide de novo Mutations in Humans

(2016) Søren Besenbacher et al.   PLoS Genetics

FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis

(2015) Yasuko Kato et al.   HUMAN MOLECULAR GENETICS

Fitting Linear Mixed-Effects Models Usinglme4

(2015) Douglas Bates et al.   Journal of Statistical Software

Differential DNA mismatch repair underlies mutation rate variation across the human genome

(2015) Fran Supek et al.   NATURE

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje 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

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

The UCSC Genome Browser database: 2016 update

(2015) Matthew L. Speir et al.   NUCLEIC ACIDS RESEARCH

Crossovers are associated with mutation and biased gene conversion at recombination hotspots

(2015) Barbara Arbeithuber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multicohort analysis of the maternal age effect on recombination

(2015) Hilary C. Martin et al.   Nature Communications

Escape from crossover interference increases with maternal age

(2015) Christopher L. Campbell et al.   Nature Communications

Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

(2015) Amy L Williams et al.   eLife

Sequence variants from whole genome sequencing a large group of Icelanders

(2015) Daniel F Gudbjartsson et al.   Scientific Data

Site-specific phosphorylation of Tau protein is associated with deacetylation of microtubules in mouse spermatogenic cells during meiosis

(2014) Hiroki Inoue et al.   FEBS LETTERS

Antagonistic roles of ubiquitin ligase HEI10 and SUMO ligase RNF212 regulate meiotic recombination

(2014) Huanyu Qiao et al.   NATURE GENETICS

Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

(2014) Jian Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recombination initiation maps of individual human genomes

(2014) F. Pratto et al.   SCIENCE

Rejuvenation of Meiotic Cohesion in Oocytes during Prophase I Is Required for Chiasma Maintenance and Accurate Chromosome Segregation

(2014) Katherine A. Weng et al.   PLoS Genetics

Initiation of Meiotic Recombination: How and Where? Conservation and Specificities Among Eukaryotes

(2013) Bernard de Massy   Annual Review of Genetics

Mouse HORMAD1 Is a Meiosis I Checkpoint Protein That Modulates DNA Double-Strand Break Repair During Female Meiosis1

(2013) Yong-Hyun Shin et al.   BIOLOGY OF REPRODUCTION

Clamping down on mammalian meiosis

(2013) Amy Lyndaker et al.   CELL CYCLE

Genetic and epigenetic determinants of DNA replication origins, position and activation

(2013) Marcel Méchali et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Common and low-frequency variants associated with genome-wide recombination rate

(2013) Augustine Kong et al.   NATURE GENETICS

RNF212 is a dosage-sensitive regulator of crossing-over during mammalian meiosis

(2013) April Reynolds et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Meiotic recombination in mammals: localization and regulation

(2013) Frédéric Baudat et al.   NATURE REVIEWS GENETICS

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

(2013) Gautier Koscielny et al.   NUCLEIC ACIDS RESEARCH

MEIOB exhibits single-stranded DNA-binding and exonuclease activities and is essential for meiotic recombination

(2013) Mengcheng Luo et al.   Nature Communications

Mouse HFM1/Mer3 Is Required for Crossover Formation and Complete Synapsis of Homologous Chromosomes during Meiosis

(2013) Michel F. Guiraldelli et al.   PLoS Genetics

Meiotic Cohesin SMC1β Provides Prophase I Centromeric Cohesion and Is Required for Multiple Synapsis-Associated Functions

(2013) Uddipta Biswas et al.   PLoS Genetics

MEIOB Targets Single-Strand DNA and Is Necessary for Meiotic Recombination

(2013) Benoit Souquet et al.   PLoS Genetics

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

(2012) Amnon Koren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Meiotic cohesin complexes are essential for the formation of the axial element in mice

(2012) Elena Llano et al.   JOURNAL OF CELL BIOLOGY

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012) Augustine Kong et al.   NATURE

Functions of DNA methylation: islands, start sites, gene bodies and beyond

(2012) Peter A. Jones   NATURE REVIEWS GENETICS

The male germ cell gene regulator CTCFL is functionally different from CTCF and binds CTCF-like consensus sites in a nucleosome composition-dependent manner

(2012) Frank Sleutels et al.   Epigenetics & Chromatin

Identification and molecular characterization of the mammalian α-kleisin RAD21L

(2011) Cristina Gutiérrez-Caballero et al.   CELL CYCLE

The landscape of recombination in African Americans

(2011) Anjali G. Hinch et al.   NATURE

Meiotic homologue alignment and its quality surveillance are controlled by mouse HORMAD1

(2011) Katrin Daniel et al.   NATURE CELL BIOLOGY

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

EAPP: Gatekeeper at the crossroad of apoptosis and p21-mediated cell-cycle arrest

(2011) P Andorfer et al.   ONCOGENE

De novo DNA methylation: a germ cell perspective

(2011) Sébastien A. Smallwood et al.   TRENDS IN GENETICS

Integrating 5-Hydroxymethylcytosine into the Epigenomic Landscape of Human Embryonic Stem Cells

(2011) Keith E. Szulwach et al.   PLoS Genetics

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

Fast stable restricted maximum likelihood and marginal likelihood estimation of semiparametric generalized linear models

(2010) Simon N. Wood   JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY

Comprehensive, Fine-Scale Dissection of Homologous Recombination Outcomes at a Hot Spot in Mouse Meiosis

(2010) Francesca Cole et al.   MOLECULAR CELL

Genetics of mammalian meiosis: regulation, dynamics and impact on fertility

(2010) Mary Ann Handel et al.   NATURE REVIEWS GENETICS

Drive Against Hotspot Motifs in Primates Implicates the PRDM9 Gene in Meiotic Recombination

(2010) S. Myers et al.   SCIENCE

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

(2010) F. Baudat et al.   SCIENCE

Hormad1 Mutation Disrupts Synaptonemal Complex Formation, Recombination, and Chromosome Segregation in Mammalian Meiosis

(2010) Yong-Hyun Shin et al.   PLoS Genetics

Cohesin SMC1β protects telomeres in meiocytes

(2009) Caroline Adelfalk et al.   JOURNAL OF CELL BIOLOGY

Parental origin of sequence variants associated with complex diseases

(2009) Augustine Kong et al.   NATURE

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

Mutation of the Mouse Syce1 Gene Disrupts Synapsis and Suggests a Link between Synaptonemal Complex Structural Components and DNA Repair

(2009) Ewelina Bolcun-Filas et al.   PLoS Genetics

Mutations of the SYCP3 Gene in Women with Recurrent Pregnancy Loss

(2008) Hasbaira Bolor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SeqAn An efficient, generic C++ library for sequence analysis

(2008) Andreas Döring et al.   BMC BIOINFORMATICS

Cohesin Smc1β determines meiotic chromatin axis loop organization

(2008) Ivana Novak et al.   JOURNAL OF CELL BIOLOGY

Detection of sharing by descent, long-range phasing and haplotype imputation

(2008) Augustine Kong et al.   NATURE GENETICS

A common sequence motif associated with recombination hot spots and genome instability in humans

(2008) Simon Myers et al.   NATURE GENETICS

Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association

(2008) A. J. Webb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA