(Q34212089)

5 August 2017

title

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

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5 August 2017

author

Mikkel Heide Schierup

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5 August 2017

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5 August 2017

Søren Brunak

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Anders D. Børglum

Kirstine Christensen Belling

Anders D. Børglum

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Søren Besenbacher

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Jakob Grove

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Jun Wang

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Torben Hansen

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Oluf Pedersen

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David Westergaard

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Piotr Dworzynski

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Kirstine Belling

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Ditte Demontis

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Simon Rasmussen

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Ole Lund

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Thorkild I.A. Sørensen

Thorkild I. A. Sørensen

Thorkild I A Sørensen

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5 August 2017

Karsten Kristiansen

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5 August 2017

Lars Bolund

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ORCID Public Data File 2021

5 August 2017

Palle Villesen

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Rachita Yadav

Rachita Yadav

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5 August 2017

Siyang Liu

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5 August 2017

Jette Bork-Jensen

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5 August 2017

Shujia Huang

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5 August 2017

Junhua Rao

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5 August 2017

Jihua Sun

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5 August 2017

Francesco Lescai

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5 August 2017

Ramneek Gupta

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5 August 2017

Kristoffer Rapacki

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5 August 2017

José M. G. Izarzugaza

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Jose Mg Izarzugaza

José M G Izarzugaza

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5 August 2017

Hans Eiberg

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5 August 2017

Thomas D. Als

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Shengting Li

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5 August 2017

Arcadio Rubio-García

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5 August 2017

Weijian Ye

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5 August 2017

Thomas Mailund

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5 August 2017

Rune M. Friborg

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Christian N. S. Pedersen

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Ruiqi Xu

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5 August 2017

Hao Liu

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5 August 2017

Ou Wang

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5 August 2017

Xiaofang Cheng

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5 August 2017

David Flores

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5 August 2017

Emil Rydza

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5 August 2017

John Damm Sørensen

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5 August 2017

Piotr Chmura

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5 August 2017

Xun Xu

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5 August 2017

Ning Li

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5 August 2017

Thomas D Als

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5 August 2017

Rune M Friborg

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5 August 2017

Christian N S Pedersen

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5 August 2017

Anders D Børglum

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5 August 2017

language of work or name

English

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publication date

19 January 2015

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full work available at URL

5 August 2017

number of pages

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

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published in

Nature Communications

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5 August 2017

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5 August 2017

page(s)

5969

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

5 August 2017

cites work

1 reference

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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

28 July 2018

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Deep whole-genome sequencing of 100 southeast Asian Malays

28 July 2018

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

28 July 2018

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28 July 2018

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

28 July 2018

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

28 July 2018

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De novo mutations in human genetic disease

28 July 2018

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AdapterRemoval: easy cleaning of next-generation sequencing reads

28 July 2018

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

28 July 2018

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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Mapping copy number variation by population-scale genome sequencing

28 July 2018

1 reference

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

28 July 2018

1 reference

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Adaptive seeds tame genomic sequence comparison

28 July 2018

1 reference

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A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

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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

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

28 July 2018

1 reference

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Building the sequence map of the human pan-genome

28 July 2018

1 reference

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

28 July 2018

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The Sequence Alignment/Map format and SAMtools

28 July 2018

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

28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

1 reference

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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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

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

21 January 2018

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

Revising the human mutation rate: implications for understanding human evolution

21 January 2018

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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

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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

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5 August 2017

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