(Q52357046)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

SvABA: genome-wide detection of structural variants and indels by local assembly (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author

Joachim Weischenfeldt

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Matthew Meyerson

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Jeremiah A Wala

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Noah F Greenwald

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Chip Stewart

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Steven E Schumacher

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Yilong Li

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Xiaotong Yao

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Gad Getz

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Cheng-Zhong Zhang

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Marcin Imielinski

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Rameen Beroukhim

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Pratiti Bandopadhayay

2

object named as

Pratiti Bandopadhayay

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author name string

Ryan O'Rourke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Ted Sharpe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Peter Campbell

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Chad Nusbaum

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

publication date

13 March 2018

1 reference

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20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

581-591

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

HySA: a Hybrid Structural variant Assembly approach using next-generation and single-molecule sequencing technologies

20 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

SeqLib: a C ++ API for rapid BAM manipulation, sequence alignment and sequence assembly

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

novoBreak: local assembly for breakpoint detection in cancer genomes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Extensive sequencing of seven human genomes to characterize benchmark reference materials

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

ScanIndel: a hybrid framework for indel detection via gapped alignment, split reads and de novo assembly

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Local sequence assembly reveals a high-resolution profile of somatic structural variations in 97 cancer genomes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Chromothripsis from DNA damage in micronuclei.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

BFC: correcting Illumina sequencing errors

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

BreaKmer: detection of structural variation in targeted massively parallel sequencing data using kmers

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Characterization of structural variants with single molecule and hybrid sequencing approaches

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Comprehensive variation discovery in single human genomes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Characterization of HPV and host genome interactions in primary head and neck cancers

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

LUMPY: a probabilistic framework for structural variant discovery.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

PBHoney: identifying genomic variants via long-read discordance and interrupted mapping

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

TIGRA: a targeted iterative graph routing assembler for breakpoint assembly

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Pan-cancer patterns of somatic copy number alteration

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Characterizing and measuring bias in sequence data

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Diverse mechanisms of somatic structural variations in human cancer genomes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Lessons from the cancer genome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

SOAPindel: efficient identification of indels from short paired reads

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

DELLY: structural variant discovery by integrated paired-end and split-read analysis

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Efficient de novo assembly of large genomes using compressed data structures

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

High order chromatin architecture shapes the landscape of chromosomal alterations in cancer

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Small insertions and deletions (INDELs) in human genomes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

The landscape of somatic copy-number alteration across human cancers

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Complex landscapes of somatic rearrangement in human breast cancer genomes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Gain-of-function mutations and copy number increases of Notch2 in diffuse large B-cell lymphoma

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Repair of ionizing radiation-induced DNA double-strand breaks by non-homologous end-joining

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Paired-end mapping reveals extensive structural variation in the human genome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

Fine-scale structural variation of the human genome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880247

2 November 2018

Identifiers

DOI

10.1101/GR.221028.117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

release_k66w5luy7nc5bpguwfuqedxxjy

20 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/k66w5luy7nc5bpguwfuqedxxjy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29535149%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference