(Q31146221)

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A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

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Europe PubMed Central

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21 August 2017

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree (English)

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Europe PubMed Central

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21 August 2017

Mitchell Bekritsky

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Mitchell A Bekritsky

6

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Zamin Iqbal

7

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Elliott H. Margulies

12

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Elliott H Margulies

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21 August 2017

author name string

Michael A Eberle

1

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21 August 2017

Epameinondas Fritzilas

2

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21 August 2017

Peter Krusche

3

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21 August 2017

Morten Källberg

4

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21 August 2017

Benjamin L Moore

5

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21 August 2017

Han-Yu Chuang

8

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21 August 2017

Sean J Humphray

9

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21 August 2017

Aaron L Halpern

10

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21 August 2017

Semyon Kruglyak

11

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21 August 2017

Gil McVean

13

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21 August 2017

David R Bentley

14

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21 August 2017

publication date

30 November 2016

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21 August 2017

Genome Research

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21 August 2017

27

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1

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21 August 2017

157-164

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21 August 2017

Canvas: versatile and scalable detection of copy number variants

1 reference

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21 June 2018

Whole-Genome Sequencing of a Healthy Aging Cohort

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Medical implications of technical accuracy in genome sequencing

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An integrated map of structural variation in 2,504 human genomes

1 reference

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A global reference for human genetic variation

1 reference

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Global diversity, population stratification, and selection of human copy-number variation

1 reference

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The precision medicine initiative: a new national effort

1 reference

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21 June 2018

Validation and assessment of variant calling pipelines for next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

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Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

1 reference

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The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

Next generation sequencing in clinical medicine: Challenges and lessons for pathology and biomedical informatics

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21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

De novo assembly and genotyping of variants using colored de Bruijn graphs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

Performance comparison of whole-genome sequencing platforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

A comprehensively molecular haplotype-resolved genome of a European individual

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

Accurate and comprehensive sequencing of personal genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

Haplotype-resolved genome sequencing of a Gujarati Indian individual.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

International network of cancer genome projects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

1 reference

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21 June 2018

Accurate whole human genome sequencing using reversible terminator chemistry

1 reference

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

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21 June 2018

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5204340

21 June 2018

Fine-scale recombination rate differences between sexes, populations and individuals

1 reference

https://api.crossref.org/works/10.1101%2FGR.210500.116

21 January 2018

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

1 reference

https://api.crossref.org/works/10.1101%2FGR.210500.116

21 January 2018

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

1 reference

https://api.crossref.org/works/10.1101%2FGR.210500.116

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The DNA of a nation

1 reference

https://api.crossref.org/works/10.1101%2FGR.210500.116

21 January 2018

Identifiers

10.1101/GR.210500.116

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

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