The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes (Q36800421)

16 August 2017

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes (English)

1 reference

16 August 2017

21

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16 August 2017

22

1 reference

16 August 2017

Erika Kvikstad

3

0 references

Konrad J. Karczewski

Konrad J Karczewski

9

0 references

David L Goode

David L Goode

2

0 references

Laurent Duret

Laurent Duret

17

0 references

1000 Genomes Project

14

1000 Genomes Project Consortium

1 reference

16 August 2017

18

Mark Gerstein

1 reference

16 August 2017

20

Jonathan Marchini

1 reference

16 August 2017

16

Arend Sidow

1 reference

16 August 2017

Stephen B Montgomery

1

1 reference

16 August 2017

Cornelis A Albers

4

1 reference

16 August 2017

Zhengdong D Zhang

5

1 reference

16 August 2017

Xinmeng Jasmine Mu

6

1 reference

16 August 2017

Guruprasad Ananda

7

1 reference

16 August 2017

Bryan Howie

8

1 reference

16 August 2017

Kevin S Smith

10

1 reference

16 August 2017

Vanessa Anaya

11

1 reference

16 August 2017

Rhea Richardson

12

1 reference

16 August 2017

Joe Davis

13

1 reference

16 August 2017

Daniel G MacArthur

15

1 reference

16 August 2017

Kateryna D Makova

19

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16 August 2017

language of work or name

1 reference

11 March 2013

1 reference

16 August 2017

1 reference

16 August 2017

23

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16 August 2017

5

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16 August 2017

749-761

1 reference

Distinct mutational behaviors differentiate short tandem repeats from microsatellites in the human genome

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Mouse genomic variation and its effect on phenotypes and gene regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Ongoing GC-biased evolution is widespread in the human genome and enriched near recombination hot spots

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Natural genetic variation caused by small insertions and deletions in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

A map of human genome variation from population-scale sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Dindel: accurate indel calls from short-read data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Small insertions and deletions (INDELs) in human genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Loss-of-function variants in the genomes of healthy humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Transcriptome genetics using second generation sequencing in a Caucasian population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Structural variation in the human genome and its role in disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Biased gene conversion and the evolution of mammalian genomic landscapes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

A microhomology-mediated break-induced replication model for the origin of human copy number variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

The biological effects of simple tandem repeats: lessons from the repeat expansion diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

The complete genome of an individual by massively parallel DNA sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

The genome-wide determinants of human and chimpanzee microsatellite evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

A macaque's-eye view of human insertions and deletions: differences in mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

The diploid genome sequence of an individual human

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Mechanism of a genetic glissando: structural biology of indel mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Genome-wide identification of human functional DNA using a neutral indel model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Formation of deletions during double-strand break repair in Drosophila DmBlm mutants occurs after strand invasion.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Impact of the KU80 pathway on NHEJ-induced genome rearrangements in mammalian cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Microsatellites: simple sequences with complex evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Context of deletions and insertions in human coding sequences.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Likelihood-based estimation of microsatellite mutation rates

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Evolutionary dynamics of microsatellite DNA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Comparative sequence analysis of human minisatellites showing meiotic repeat instability.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Double strand break repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Microsatellite Instability in Yeast: Dependence on the Length of the Microsatellite

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Natural selection and the frequency distributions of "silent" DNA polymorphism in Drosophila.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Slipped-strand mispairing: a major mechanism for DNA sequence evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Deletions and insertions in the p53 tumor suppressor gene in human cancers: confirmation of the DNA polymerase slippage/misalignment model.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

A novel mutational hotspot in a natural quasipalindrome in Escherichia coli.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

A threshold size for microsatellite expansion

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

Microsatellite allele frequencies in humans and chimpanzees, with implications for constraints on allele size

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638132

On slippage-like mutation dynamics within genes: a study of pseudogenes and 3'UTRs

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23478400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Insertions, substitutions, and the origin of microsatellites

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23478400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Local Rates of Recombination Are Positively Correlated with GC Content in the Human Genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23478400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.148718.112

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

23478400

1 reference