Estimating the human mutation rate using autozygosity in a founder population (Q24622247)

10

0 references

Evan E. Eichler

13

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Peter H Sudmant

Peter H Sudmant

9

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Brian J O'Roak

Brian J O'Roak

8

0 references

Jessica X. Chong

Jessica X Chong

2

0 references

Carole Ober

12

Carole Ober

0 references

Maika Malig

3

Maika Malig

0 references

Catarina D Campbell

1

Catarina D Campbell

0 references

Mark Abney

11

Mark Abney

0 references

author name string

Arthur Ko

4

0 references

Beth L Dumont

5

0 references

Lide Han

6

0 references

Laura Vives

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

7

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language of work or name

English

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publication date

November 2012

0 references

published in

Nature Genetics

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volume

44

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page(s)

1277-81

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issue

11

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

A map of human genome variation from population-scale sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Fast and accurate short read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

PLINK: a tool set for whole-genome association and population-based linkage analyses

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Estimate of the mutation rate per nucleotide in humans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Rates of spontaneous mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

The Sequence Alignment/Map format and SAMtools

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Multiplex amplification of large sets of human exons

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

A direct characterization of human mutation based on microsatellites

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Identity by descent estimation with dense genome-wide genotype data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Pervasive multinucleotide mutational events in eukaryotes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Rate, molecular spectrum, and consequences of human mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Broad-scale recombination patterns underlying proper disjunction in humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Massively parallel exon capture and library-free resequencing across 16 genomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Gene conversion: mechanisms, evolution and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

Quantitative-trait homozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3483378

The rate of spontaneous mutation of a human gene

27 September 2017

1 reference

Postassociation cleaning using linkage disequilibrium information

21 January 2018

1 reference

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

21 January 2018

1 reference

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

21 January 2018

1 reference

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23001126

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The mutation rate of the gene for haemophilia, and its segregation ratios in males and females

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23001126

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2418

1 reference

Dimensions Publication ID

323143

1038029042

0 references

323143

1 reference

1 reference

1 reference