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Low Incidence of DNA Sequence Variation in Human Induced Pluripotent Stem Cells Generated by Nonintegrating Plasmid Expression

Cell stem cell, 2012-03, Vol.10 (3), p.337-344

2012

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

PLoS genetics, 2011-10, Vol.7 (10), p.e1002325-e1002325

2011

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Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing

Cancer, 2017-09, Vol.123 (17), p.3261-3268

2017

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Selection for long and short sleep duration in Drosophila melanogaster reveals the complex genetic network underlying natural variation in sleep

PLoS genetics, 2017-12, Vol.13 (12), p.e1007098

2017

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iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations

Proceedings of the National Academy of Sciences - PNAS, 2017-02, Vol.114 (8), p.1964-1969

2017

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Long-read mapping to repetitive reference sequences using Winnowmap2

Nature methods, 2022-06, Vol.19 (6), p.705-710

2022

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Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

Genome research, 2010-10, Vol.20 (10), p.1420-1431

2010

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The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

Genome Research, 2009-09, Vol.19 (9), p.1665-1674

2009

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas

PloS one, 2022-01, Vol.17 (1), p.e0251286-e0251286

2022

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Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans

PloS one, 2020-04, Vol.15 (4), p.e0232048-e0232048

2020

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An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval

American journal of human genetics, 2014-06, Vol.94 (6), p.854-869

2014

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The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas

Cancer, 2018-01, Vol.124 (1), p.65-73

2018

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The Sleep Inbred Panel, a Collection of Inbred Drosophila melanogaster with Extreme Long and Short Sleep Duration

G3 : genes - genomes - genetics, 2018-09, Vol.8 (9), p.2865-2873

2018

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Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans

PLoS genetics, 2014-03, Vol.10 (3), p.e1004190

2014

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A complete reference genome improves analysis of human genetic variation

Science (American Association for the Advancement of Science), 2022-04, Vol.376 (6588), p.eabl3533-eabl3533

2022

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Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A

PloS one, 2013-06, Vol.8 (6), p.e63313-e63313

2013

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NovoGraph: Human genome graph construction from multiple long-read de novo assemblies [version 2; peer review: 2 approved]

F1000 research, 2018, Vol.7, p.1391-1391

2018

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Variant Calling From Next Generation Sequence Data

Methods in molecular biology (Clifton, N.J.), 2016, Vol.1418, p.209

Hansen, Nancy F

2016

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Light whole genome sequence for SNP discovery across domestic cat breeds

BMC genomics, 2010-06, Vol.11 (1), p.406-406

2010

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Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

Nature genetics, 2012-12, Vol.44 (12), p.1310-1315

2012

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Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas

Neuro-oncology (Charlottesville, Va.), 2019-08, Vol.21 (8), p.981-992

2019

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Shimmer: detection of genetic alterations in tumors using next-generation sequence data

Bioinformatics, 2013-06, Vol.29 (12), p.1498-1503

2013

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Evaluation of variant detection software for pooled next-generation sequence data

BMC bioinformatics, 2015-07, Vol.16 (1), p.235-235, Article 235

2015

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Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas

Scientific reports, 2020-07, Vol.10 (1), p.12563-12563, Article 12563

2020

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Low Incidence of DNA Sequence Variation in Human Induced Pluripotent Stem Cells Generated by Nonintegrating Plasmid Expression

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing

Selection for long and short sleep duration in Drosophila melanogaster reveals the complex genetic network underlying natural variation in sleep

iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations

Long-read mapping to repetitive reference sequences using Winnowmap2

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas

Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans

An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval

The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

The Sleep Inbred Panel, a Collection of Inbred Drosophila melanogaster with Extreme Long and Short Sleep Duration

Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans

A complete reference genome improves analysis of human genetic variation

Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A

NovoGraph: Human genome graph construction from multiple long-read de novo assemblies [version 2; peer review: 2 approved]

Variant Calling From Next Generation Sequence Data

Light whole genome sequence for SNP discovery across domestic cat breeds

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas

Shimmer: detection of genetic alterations in tumors using next-generation sequence data

Evaluation of variant detection software for pooled next-generation sequence data

Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas

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