(Q36201705)

12 August 2017

A framework for the detection of de novo mutations in family-based sequencing data (English)

1 reference

12 August 2017

Kaitlin E Samocha

7

0 references

Mark Joseph Daly

9

object named as

Mark J Daly

1 reference

12 August 2017

8

Benjamin M Neale

1 reference

12 August 2017

Laurent C Francioli

1

1 reference

12 August 2017

Mircea Cretu-Stancu

2

1 reference

12 August 2017

Kiran V Garimella

3

1 reference

12 August 2017

Menachem Fromer

4

1 reference

12 August 2017

Wigard P Kloosterman

5

1 reference

12 August 2017

Genome of the Netherlands consortium

6

1 reference

12 August 2017

Eric Banks

10

1 reference

12 August 2017

Mark A DePristo

11

1 reference

12 August 2017

Paul Iw de Bakker

12

1 reference

12 August 2017

23 November 2016

1 reference

European Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

25

1 reference

12 August 2017

2

1 reference

12 August 2017

227-233

1 reference

Creative Commons Attribution 4.0 International

12 August 2017

start time

23 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

A Bayesian framework for de novo mutation calling in parents-offspring trios

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

De novo mutations in human genetic disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

Variation in the mutation rate across mammalian genomes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

Assemblathon 1: a competitive assessment of de novo short read assembly methods

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

Estimate of the mutation rate per nucleotide in humans

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255947

1 October 2017

Identifiers

DOI

10.1038/EJHG.2016.147

1 reference

Dimensions Publication ID

12 August 2017

0 references

1 reference

12 August 2017

PubMed publication ID

27876817

1 reference