(Q34212089)

5 August 2017

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

1 reference

5 August 2017

Mikkel Heide Schierup

43

1 reference

5 August 2017

39

1 reference

5 August 2017

41

Søren Brunak

0 references

Anders D. Børglum

40

Anders D. Børglum

0 references

Søren Besenbacher

Søren Besenbacher

1

0 references

Jakob Grove

Jakob Grove

4

0 references

Jun Wang

Jun Wang

44

0 references

Torben Hansen

Torben Hansen

33

0 references

Oluf Borbye Pedersen

Oluf Pedersen

37

0 references

David Westergaard

David Westergaard

29

0 references

Piotr Dworzynski

Piotr Dworzynski

Kirstine Christensen Belling

30

0 references

Kirstine Belling

5

0 references

Ditte Demontis

Ditte Demontis

13

0 references

Simon Rasmussen

Simon Rasmussen

47

0 references

Ole Lund

Ole Lund

32

0 references

Thorkild I.A. Sørensen

31

Thorkild I. A. Sørensen

Thorkild I A Sørensen

1 reference

5 August 2017

42

Karsten Kristiansen

1 reference

5 August 2017

36

Lars Bolund

1 reference

5 August 2017

Palle Villesen

46

1 reference

ORCID Public Data File 2021

Rachita Yadav

10

Rachita Yadav

1 reference

5 August 2017

2

Siyang Liu

1 reference

5 August 2017

6

Jette Bork-Jensen

1 reference

5 August 2017

7

Shujia Huang

1 reference

5 August 2017

14

Junhua Rao

1 reference

5 August 2017

20

Jihua Sun

1 reference

5 August 2017

12

Francesco Lescai

1 reference

5 August 2017

45

Ramneek Gupta

1 reference

5 August 2017

26

Kristoffer Rapacki

1 reference

5 August 2017

3

José M. G. Izarzugaza

0 references

Jose Mg Izarzugaza

3

José M G Izarzugaza

1 reference

5 August 2017

Thomas D. Als

8

0 references

Shengting Li

9

1 reference

5 August 2017

Arcadio Rubio-García

11

1 reference

5 August 2017

Weijian Ye

15

1 reference

5 August 2017

Thomas Mailund

16

1 reference

5 August 2017

Rune M. Friborg

17

0 references

Christian N. S. Pedersen

18

0 references

Ruiqi Xu

19

1 reference

5 August 2017

Hao Liu

21

1 reference

5 August 2017

Ou Wang

22

1 reference

5 August 2017

Xiaofang Cheng

23

1 reference

5 August 2017

David Flores

24

1 reference

5 August 2017

Emil Rydza

25

1 reference

5 August 2017

John Damm Sørensen

27

1 reference

5 August 2017

Piotr Chmura

28

1 reference

5 August 2017

Xun Xu

34

1 reference

5 August 2017

Ning Li

35

1 reference

5 August 2017

Hans Eiberg

38

1 reference

5 August 2017

Thomas D Als

8

1 reference

5 August 2017

Rune M Friborg

17

1 reference

5 August 2017

Christian N S Pedersen

18

1 reference

5 August 2017

Anders D Børglum

40

1 reference

5 August 2017

language of work or name

English

0 references

publication date

19 January 2015

1 reference

full work available at URL

5 August 2017

9

0 references

https://www.nature.com/articles/ncomms6969.pdf

0 references

published in

Nature Communications

1 reference

5 August 2017

6

1 reference

5 August 2017

5969

1 reference

https://scigraph.springernature.com/pub.10.1038/ncomms6969

5 August 2017

0 references

cites work

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Determinants of mutation rate variation in the human germline

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Whole-genome sequence variation, population structure and demographic history of the Dutch population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

DeNovoGear: de novo indel and point mutation discovery and phasing.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

The Genome of the Netherlands: design, and project goals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Deep whole-genome sequencing of 100 southeast Asian Malays

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

An integrated map of genetic variation from 1,092 human genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

De novo mutations in human genetic disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

AdapterRemoval: easy cleaning of next-generation sequencing reads

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

A systematic survey of loss-of-function variants in human protein-coding genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Mapping copy number variation by population-scale genome sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Adaptive seeds tame genomic sequence comparison

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Rate, molecular spectrum, and consequences of human mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

De novo assembly of human genomes with massively parallel short read sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Building the sequence map of the human pan-genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

The Sequence Alignment/Map format and SAMtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

The diploid genome sequence of an individual human

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Automating resequencing-based detection of insertion-deletion polymorphisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Tandem repeats finder: a program to analyze DNA sequences

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Linkage between serum cholinesterase 2 (CHE2) and gamma-crystallin gene cluster (CRYG): assignment to chromosome 2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Basic local alignment search tool

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309431

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

28 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6969

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6969

Revising the human mutation rate: implications for understanding human evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6969

Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6969

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6969

Tracking and coordinating an international curation effort for the CCDS Project

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6969

Current status and new features of the Consensus Coding Sequence database

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6969

Patterns and rates of exonic de novo mutations in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6969

Probabilistic whole-genome alignments reveal high indel rates in the human and mouse genomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS6969

Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25597990

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS6969

1 reference

Dimensions Publication ID

5 August 2017

0 references

0 references

1 reference

5 August 2017

1 reference