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Fragment Length of Circulating Tumor DNA

PLoS genetics, 2016-07, Vol.12 (7), p.e1006162-e1006162

2016

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Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions

Nature biotechnology, 2013-12, Vol.31 (12), p.1119-1125

2013

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Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Genome Biology, 2023-12, Vol.24 (1), p.294-22, Article 294

2023

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Haplotype-resolved genome sequencing: experimental methods and applications

Nature reviews. Genetics, 2015-06, Vol.16 (6), p.344-358

2015

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Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

Genome biology, 2010-12, Vol.11 (12), p.R119-R119, Article R119

2010

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Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk

American journal of human genetics, 2021-01, Vol.108 (1), p.163-175

2021

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Haplotypes drop by drop

Nature biotechnology, 2016-03, Vol.34 (3), p.296-298

Kitzman, Jacob O

2016

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Poxviruses Deploy Genomic Accordions to Adapt Rapidly against Host Antiviral Defenses

Cell, 2012-08, Vol.150 (4), p.831-841

2012

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Variant Interpretation: Functional Assays to the Rescue

American journal of human genetics, 2017-09, Vol.101 (3), p.315-325

2017

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Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

Genetics (Austin), 2015-06, Vol.200 (2), p.413-422

2015

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Elevated exopolysaccharide levels in Pseudomonas aeruginosa flagellar mutants have implications for biofilm growth and chronic infections

PLoS genetics, 2020-06, Vol.16 (6), p.e1008848

2020

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Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

Genome Biology, 2022-12, Vol.23 (1), p.266-266, Article 266

2022

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Disruption of RNA Splicing Is an Important Contributor to Congenital Hypopituitarism and Other Human Genetic Diseases

Endocrinology (Philadelphia), 2023-03, Vol.164 (5)

2023

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Personalized copy number and segmental duplication maps using next-generation sequencing

Nature genetics, 2009-10, Vol.41 (10), p.1061-1067

2009

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The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line

Nature (London), 2013-08, Vol.500 (7461), p.207-211

2013

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In vitro, long-range sequence information for de novo genome assembly via transposase contiguity

Genome research, 2014-12, Vol.24 (12), p.2041-2049

2014

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Noninvasive whole-genome sequencing of a human fetus

Science translational medicine, 2012-06, Vol.4 (137), p.137ra76

2012

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Massively parallel single-amino-acid mutagenesis

Nature methods, 2015-03, Vol.12 (3), p.203-206

2015

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SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells

BMC genomics, 2020-08, Vol.21 (1), p.549-549, Article 549

2020

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Large-scale genomic sequencing of extraintestinal pathogenic Escherichia coli strains

Genome research, 2015-01, Vol.25 (1), p.119-128

2015

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Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes

Nucleic acids research, 2024-06, Vol.52 (13), p.7761-7779

2024

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Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results

The New England journal of medicine, 2015-04, Vol.372 (17), p.1639-1645

2015

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Adaptive gene amplification as an intermediate step in the expansion of virus host range

PLoS pathogens, 2014-03, Vol.10 (3), p.e1004002

2014

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The complete genome sequence of a Neanderthal from the Altai Mountains

Nature (London), 2014-01, Vol.505 (7481), p.43-49

2014

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Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing

Nature genetics, 2014-12, Vol.46 (12), p.1343-1349

2014

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Fragment Length of Circulating Tumor DNA

Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

Haplotype-resolved genome sequencing: experimental methods and applications

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk

Haplotypes drop by drop

Poxviruses Deploy Genomic Accordions to Adapt Rapidly against Host Antiviral Defenses

Variant Interpretation: Functional Assays to the Rescue

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

Elevated exopolysaccharide levels in Pseudomonas aeruginosa flagellar mutants have implications for biofilm growth and chronic infections

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

Disruption of RNA Splicing Is an Important Contributor to Congenital Hypopituitarism and Other Human Genetic Diseases

Personalized copy number and segmental duplication maps using next-generation sequencing

The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line

In vitro, long-range sequence information for de novo genome assembly via transposase contiguity

Noninvasive whole-genome sequencing of a human fetus

Massively parallel single-amino-acid mutagenesis

SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells

Large-scale genomic sequencing of extraintestinal pathogenic Escherichia coli strains

Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes

Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results

Adaptive gene amplification as an intermediate step in the expansion of virus host range

The complete genome sequence of a Neanderthal from the Altai Mountains

Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing

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