References
Ahn SM,
Kim TH,
Lee S et al.
(2009)
The first Korean genome sequence and analysis: full genome sequencing for a socio‐ethnic group.
Genome Research
19:
1622–1629.
Bentley DR,
Balasubramanian S,
Swerdlow HP et al.
(2008)
Accurate whole human genome sequencing using reversible terminator chemistry.
Nature
456:
53–59.
Chen K,
Wallis JW,
McLellan MD et al.
(2009)
BreakDancer: an algorithm for high‐resolution mapping of genomic structural variation.
Nature Methods
6:
677–681.
Cooper GM,
Zerr T,
Kidd JM et al.
(2008)
Systematic assessment of copy number variant detection via genome‐wide SNP genotyping.
Nature Genetics
40:
1199–1203.
Ding L,
Getz G,
Wheeler DA et al.
(2008)
Somatic mutations affect key pathways in lung adenocarcinoma.
Nature
455:
1069–1075.
Easton DF and
Eeles RA
(2008)
Genome‐wide association studies in cancer.
Human Molecular Genetics
17:
R109–R115.
ENCODE Project Consortium
(2004)
The ENCODE (ENCyclopedia Of DNA Elements) Project.
Science
306:
636–640.
ENCODE Project Consortium
(2007)
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.
Nature
447:
799–816.
Estivill X and
Armengol L
(2007)
Copy number variants and common disorders: filling the gaps and exploring complexity in genome‐wide association studies.
PLoS Genetics
3:
1787–1799.
Greenman C,
Stephens P,
Smith R et al.
(2007)
Patterns of somatic mutation in human cancer genomes.
Nature
446:
153–158.
Gupta PK
(2008)
Single‐molecule DNA sequencing technologies for future genomics research.
Trends in Biotechnology
26:
602–611.
Hinds DA,
Kloek AP,
Jen M et al.
(2006)
Common deletions and SNPs are in linkage disequilibrium in the human genome.
Nature Genetics
38:
82–85.
Hunter DJ and
Kraft P
(2008)
Drinking from the fire hose: statistical issues in genomewide association studies.
New England Journal of Medicine
357:
436–439.
Iafrate AJ,
Feuk L,
Rivera MN et al.
(2004)
Detection of large‐scale variation in the human genome.
Nature Genetics
36:
949–951.
International HapMap Consortium
(2003)
The International HapMap Project.
Nature
426:
789–796.
International HapMap Consortium
(2007)
A second generation human haplotype map of over 3.1 million SNPs.
Nature
449:
851–861.
International Human Genome Sequencing Consortium
(2001)
Initial sequencing and analysis of the human genome.
Nature
409:
860–921.
International Human Genome Sequencing Consortium
(2004)
Finishing the euchromatic sequence of the human genome.
Nature
431:
931–945.
Kaiser J
(2008)
A plan to capture human diversity in 1000 genomes.
Science
319:
395.
Kim JI,
Ju YS,
Park H et al.
(2009)
A highly annotated whole‐genome sequence of a Korean individual.
Nature
460:
1011–1015.
Lassmann T,
Hayashizaki Y and
Daub CO
(2009)
TagDust: a program to eliminate artifacts from next generation sequencing data.
Bioinformatics
25:
2839–2840.
Levy S,
Sutton G,
Ng PC et al.
(2007)
The diploid genome sequence of an individual human.
PLoS Biology
5:
e254.
Ley TJ,
Mardis ER,
Ding L et al.
(2008)
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
Nature
456:
66–72.
Li R,
Yu C,
Li Y et al.
(2009a)
SOAP2: an improved ultrafast tool for short read alignment.
Bioinformatics
25:
1966–1967.
Li R,
Li Y,
Fang X et al.
(2009b)
SNP detection for massively parallel whole‐genome resequencing.
Genome Research
19:
1124–1132.
Maher B
(2009)
Exome sequencing takes centre stage in cancer profiling.
Nature
459:
146–147.
Mardis ER
(2006)
Anticipating the 1,000 dollar genome.
Genome Biology
7:
112.
Mardis ER
(2008)
Next‐generation DNA sequencing methods.
Annual Review of Genomics and Human Genetics
9:
387–402.
Martinez‐Alcantara A,
Ballesteros E,
Feng C et al.
(2009)
PIQA: pipeline for Illumina G1 genome analyzer data quality assessment.
Bioinformatics
25:
2438–2349.
McCarroll SA,
Huett A,
Kuballa P et al.
(2008b)
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.
Nature Genetics
40:
1107–1112.
McCarroll SA,
Kuruvilla FG,
Korn JM et al.
(2008a)
Integrated detection and population‐genetic analysis of SNPs and copy number variation.
Nature Genetics
40:
1166–1174.
McKernan KJ,
Peckham HE,
Costa GL et al.
(2009)
Sequence and structural variation in a human genome uncovered by short‐read, massively parallel ligation sequencing using two‐base encoding.
Genome Research
19:
1527–1241.
Morozova O and
Marra MA
(2008)
Applications of next‐generation sequencing technologies in functional genomics.
Genomics
92:
255–264.
Nejentsev S,
Walker N,
Riches D et al.
(2009)
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
Science
324:
387–389.
Pennisi E
(2007)
Working the (gene count) numbers: finally, a firm answer?
Science
316:
1113.
Prickett TD,
Agrawal NS,
Wei X et al.
(2009)
Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4.
Nature Genetics
41:
1127–1132.
Pushkarev D,
Neff NF and
Quake SR
(2009)
Single‐molecule sequencing of an individual human genome.
Nature Biotechnology
27:
847–852.
Rothberg JM and
Leamon JH
(2008)
The development and impact of 454 sequencing.
Nature Biotechnology
26:
1117–1124.
Scherer SW,
Lee C,
Birney E et al.
(2007)
Challenges and standards in integrating surveys of structural variation.
Nature Genetics
39:
S7–S15.
Sebat J,
Lakshmi B,
Troge J et al.
(2004)
Large‐scale copy number polymorphism in the human genome.
Science
305:
525–528.
Shendure J and
Ji H
(2008)
Next‐generation DNA sequencing.
Nature Biotechnology
26:
1135–1145.
Summerer D
(2009)
Enabling technologies of genomic‐scale sequence enrichment for targeted high‐throughput sequencing.
Genomics
94:
363–368.
Venter JC,
Adams MD,
Myers EW et al.
(2001)
The sequence of the human genome.
Science
291:
1304–1351.
Wain LV,
Armour JA and
Tobin MD
(2009)
Genomic copy number variation, human health, and disease.
Lancet
374:
340–350.
Wang J,
Wang W,
Li R et al.
(2008)
The diploid genome sequence of an Asian individual.
Nature
456:
60–65.
Wheeler DA,
Srinivasan M,
Egholm M et al.
(2008)
The complete genome of an individual by massively parallel DNA sequencing.
Nature
452:
872–876.
Wood LD,
Parsons DW,
Jones S et al.
(2007)
The genomic landscapes of human breast and colorectal cancers.
Science
318:
1108–1113.
Yoon S,
Xuan Z,
Makarov V et al.
(2009)
Sensitive and accurate detection of copy number variants using read depth of coverage.
Genome Research
19:
1586–1592.
Further Reading
Frazer KA,
Murray SS,
Schork NJ et al.
(2009)
Human genetic variation and its contribution to complex traits.
Nature Reviews. Genetics
10:
241–251.
Mardis ER and
Wilson RK
(2009)
Cancer genome sequencing: a review.
Human Molecular Genetics
18:
R163–R168.
Tucker T,
Marra M and
Friedman JM
(2009)
Massively parallel sequencing: the next big thing in genetic medicine.
American Journal of Human Genetics
85:
142–154.