Challenges of sequencing human genomes (Q33592630)

28 July 2017

1 reference

title

Challenges of sequencing human genomes (English)

1 reference

28 July 2017

3

Elaine R Mardis

1 reference

28 July 2017

Daniel C Koboldt

1

1 reference

PubMed ID

20519329

28 July 2017

Li Ding

series ordinal

2

1 reference

PubMed ID

20519329

28 July 2017

Richard K Wilson

series ordinal

4

1 reference

28 July 2017

2 June 2010

1 reference

Briefings in Bioinformatics

28 July 2017

1 reference

28 July 2017

11

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28 July 2017

5

1 reference

28 July 2017

484-498

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Genome remodelling in a basal-like breast cancer metastasis and xenograft

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

A new strategy for genome assembly using short sequence reads and reduced representation libraries

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

De novo assembly of human genomes with massively parallel short read sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

A small-cell lung cancer genome with complex signatures of tobacco exposure

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

A comprehensive catalogue of somatic mutations from a human cancer genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

BFAST: an alignment tool for large scale genome resequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Targeted capture and massively parallel sequencing of 12 human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Single-molecule sequencing of an individual human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Recurring mutations found by sequencing an acute myeloid leukemia genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Sensitive and accurate detection of copy number variants using read depth of coverage

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Statistical aspects of discerning indel-type structural variation via DNA sequence alignment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Methods for genomic partitioning

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

A highly annotated whole-genome sequence of a Korean individual

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

De novo transcriptome assembly with ABySS.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

The Sequence Alignment/Map format and SAMtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

SHRiMP: accurate mapping of short color-space reads

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

SNP detection for massively parallel whole-genome resequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Method for improving sequence coverage uniformity of targeted genomic intervals amplified by LR-PCR using Illumina GA sequencing-by-synthesis technology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

ABySS: a parallel assembler for short read sequence data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

RNA-Seq: a revolutionary tool for transcriptomics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

The diploid genome sequence of an Asian individual

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

HITS-CLIP yields genome-wide insights into brain alternative RNA processing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

The complete genome of an individual by massively parallel DNA sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Evaluation of paired-end sequencing strategies for detection of genome rearrangements in cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

A sequence-based survey of the complex structural organization of tumor genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Velvet: algorithms for de novo short read assembly using de Bruijn graphs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

The impact of next-generation sequencing technology on genetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Genome-wide in situ exon capture for selective resequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Direct selection of human genomic loci by microarray hybridization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

The personal genome project

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Direct genomic selection.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

End-sequence profiling: sequence-based analysis of aberrant genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

SSAHA: a fast search method for large DNA databases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

dbSNP: the NCBI database of genetic variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Accurate whole human genome sequencing using reversible terminator chemistry

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

Complete Khoisan and Bantu genomes from southern Africa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

Target-enrichment strategies for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

Microarray-based genomic selection for high-throughput resequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

Mapping short DNA sequencing reads and calling variants using mapping quality scores

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

SOAP2: an improved ultrafast tool for short read alignment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

Searching for SNPs with cloud computing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBQ016

Artificial and natural duplicates in pyrosequencing reads of metagenomic data

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Personal genome sequencing: current approaches and challenges

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

A SNP discovery method to assess variant allele probability from next-generation resequencing data

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Genome sequencing in microfabricated high-density picolitre reactors

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

Reconstructing tumor genome architectures

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

BLAT—The BLAST-Like Alignment Tool

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980933

30 October 2018

Identifiers

DOI

10.1093/BIB/BBQ016

1 reference

journals/bib/KoboldtDMW10

28 July 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

28 July 2017

1 reference

PubMed ID

20519329