Comprehensive variation discovery in single human genomes (Q34572388)

3 August 2017

Comprehensive variation discovery in single human genomes (English)

1 reference

3 August 2017

12

Eric S Lander

1 reference

3 August 2017

Bayo Lau

4

0 references

Shuangye Yin

object named as

Shuangye Yin

2

0 references

Chad Nusbaum

11

object named as

Chad Nusbaum

1 reference

3 August 2017

13

Iain MacCallum

1 reference

3 August 2017

Neil I Weisenfeld

1

1 reference

3 August 2017

Ted Sharpe

3

1 reference

3 August 2017

Ryan Hegarty

5

1 reference

3 August 2017

Laurie Holmes

6

1 reference

3 August 2017

Brian Sogoloff

7

1 reference

3 August 2017

Diana Tabbaa

8

1 reference

3 August 2017

Louise Williams

9

1 reference

3 August 2017

Carsten Russ

10

1 reference

3 August 2017

David B Jaffe

14

1 reference

3 August 2017

language of work or name

English

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publication date

19 October 2014

1 reference

3 August 2017

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3 August 2017

46

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3 August 2017

12

1 reference

3 August 2017

1350-1355

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.3121

3 August 2017

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cites work

Characterizing and measuring bias in sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

A support vector machine for identification of single-nucleotide polymorphisms from next-generation sequencing data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

A likelihood-based framework for variant calling and de novo mutation detection in families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

lobSTR: A short tandem repeat profiler for personal genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Efficient de novo assembly of large genomes using compressed data structures

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

ECHO: a reference-free short-read error correction algorithm

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Improving SNP discovery by base alignment quality

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

High-quality draft assemblies of mammalian genomes from massively parallel sequence data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Nebulin, a major player in muscle health and disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

A map of human genome variation from population-scale sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Dindel: accurate indel calls from short-read data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Integrating common and rare genetic variation in diverse human populations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Iterative Correction of Reference Nucleotides (iCORN) using second generation sequencing technology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Pebble and rock band: heuristic resolution of repeats and scaffolding in the velvet short-read de novo assembler

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Genomics. Genome project standards in a new era of sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

ALLPATHS: de novo assembly of whole-genome shotgun microreads

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Diseases of unstable repeat expansion: mechanisms and common principles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Finishing the euchromatic sequence of the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

ARACHNE: a whole-genome shotgun assembler

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

An Eulerian path approach to DNA fragment assembly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

The Sequence of the Human Genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

A whole-genome assembly of Drosophila

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244235

Bootstrap Methods: Another Look at the Jackknife

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3121

High-throughput gene mapping in Caenorhabditis elegans

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3121

Shotgun sequence assembly and recent segmental duplications within the human genome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25326702

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25326702

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A fast and symmetric DUST implementation to mask low-complexity DNA sequences

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25326702

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3121

1 reference

3 August 2017

1 reference

3 August 2017

1 reference