(Q83229123)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

Ziyue Gao

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

Molly Przeworski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

6

Lynn B Jorde

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

author name string

Brent S Pedersen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

Lisa Baird

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

Aaron R Quinlan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

language of work or name

English

0 references

publication date

24 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

12 April 2020

Jupyter notebook file

1 reference

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

PubMed Central

cites work

1 reference

12 December 2020

The high spontaneous mutation rate: is it a health risk?

1 reference

12 December 2020

Cytosine deamination plays a primary role in the evolution of mammalian isochores

1 reference

12 December 2020

Estimate of the mutation rate per nucleotide in humans

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020

The origins, patterns and implications of human spontaneous mutation

1 reference

12 December 2020

Epigenetic reprogramming in mammalian development

1 reference

12 December 2020

The International HapMap Project

1 reference

12 December 2020

The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees

1 reference

12 December 2020

From linkage maps to quantitative trait loci: the history and science of the Utah genetic reference project

1 reference

12 December 2020

The Sequence Alignment/Map format and SAMtools

1 reference

12 December 2020

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

1 reference

12 December 2020

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

12 December 2020

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

1 reference

12 December 2020

De novo mutations in human genetic disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Revising the human mutation rate: implications for understanding human evolution

1 reference

12 December 2020

The dynamics of genome-wide DNA methylation reprogramming in mouse primordial germ cells

1 reference

12 December 2020

A genomic view of mosaicism and human disease

1 reference

12 December 2020

SAMBLASTER: fast duplicate marking and structural variant read extraction

1 reference

12 December 2020

Toward better understanding of artifacts in variant calling from high-coverage samples

1 reference

12 December 2020

Determinants of mutation rate variation in the human germline

1 reference

12 December 2020

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

1 reference

12 December 2020

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics

1 reference

12 December 2020

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

1 reference

12 December 2020

Somatic mosaicism: implications for disease and transmission genetics

1 reference

12 December 2020

Genome-wide patterns and properties of de novo mutations in humans

1 reference

12 December 2020

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

1 reference

12 December 2020

The origins, determinants, and consequences of human mutations

1 reference

12 December 2020

A global reference for human genetic variation

1 reference

12 December 2020

Timing, rates and spectra of human germline mutation

1 reference

12 December 2020

New observations on maternal age effect on germline de novo mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Genome-wide characteristics of de novo mutations in autism

1 reference

12 December 2020

Specification and epigenetic programming of the human germ line

1 reference

12 December 2020

Human Germline Mutation and the Erratic Evolutionary Clock

1 reference

12 December 2020

Multi-nucleotide de novo Mutations in Humans

1 reference

12 December 2020

New insights into the generation and role of de novo mutations in health and disease

1 reference

12 December 2020

Mosaicism in health and disease - clones picking up speed

1 reference

12 December 2020

Prevalence and architecture of de novo mutations in developmental disorders

1 reference

12 December 2020

Differences in the rare variant spectrum among human populations

1 reference

12 December 2020

cyvcf2: fast, flexible variant analysis with Python.

1 reference

12 December 2020

Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy

1 reference

12 December 2020

Rapid evolution of the human mutation spectrum

1 reference

12 December 2020

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

1 reference

12 December 2020

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

1 reference

12 December 2020

Genomic Patterns of De Novo Mutation in Simplex Autism.

1 reference

12 December 2020

mosdepth: quick coverage calculation for genomes and exomes

1 reference

12 December 2020

Multiple transmissions of de novo mutations in families

1 reference

12 December 2020

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

1 reference

12 December 2020

Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes

1 reference

12 December 2020

Identifiers

DOI

10.7554/ELIFE.46922

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31549960%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

1 reference