(Q35895399)

11 August 2017

svclassify: a method to establish benchmark structural variant calls (English)

1 reference

11 August 2017

9

Wolfgang Losert

1 reference

11 August 2017

Hemang Parikh

1

1 reference

11 August 2017

Marghoob Mohiyuddin

2

1 reference

11 August 2017

Hugo Y K Lam

3

1 reference

11 August 2017

Hariharan Iyer

4

1 reference

11 August 2017

Desu Chen

5

1 reference

11 August 2017

Mark Pratt

6

1 reference

11 August 2017

Gabor Bartha

7

1 reference

11 August 2017

Noah Spies

8

1 reference

11 August 2017

Justin M Zook

10

1 reference

11 August 2017

Marc Salit

11

1 reference

11 August 2017

language of work or name

English

0 references

publication date

16 January 2016

1 reference

11 August 2017

1 reference

11 August 2017

17

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11 August 2017

64

1 reference

svviz: a read viewer for validating structural variants

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

Assessing structural variation in a personal genome-towards a human reference diploid genome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

LUMPY: a probabilistic framework for structural variant discovery.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

Detecting and annotating genetic variations using the HugeSeq pipeline

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

Genome structural variation discovery and genotyping

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

Mapping copy number variation by population-scale genome sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

Integrative genomics viewer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

A map of human genome variation from population-scale sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

The clinical context of copy number variation in the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

BEDTools: a flexible suite of utilities for comparing genomic features

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

The Sequence Alignment/Map format and SAMtools

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

Fast and accurate short read alignment with Burrows-Wheeler transform

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4715349

10.1186/S12864-016-2366-2

11 July 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

26772178

1 reference