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Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Science (American Association for the Advancement of Science), 2021-04, Vol.372 (6537)

2021

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Genomic Patterns of De Novo Mutation in Simplex Autism

Cell, 2017-10, Vol.171 (3), p.710-722.e12

2017

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Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs

Cell, 2020-10, Vol.183 (1), p.197-210.e32

2020

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De novo assembly of highly diverse viral populations

BMC genomics, 2012-09, Vol.13 (1), p.475-475

2012

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The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility

PLoS genetics, 2012-06, Vol.8 (6), p.e1002775

2012

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Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Nature genetics, 2022-04, Vol.54 (4), p.518-525

2022

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Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium

Nature communications, 2020-10, Vol.11 (1), p.5139-18, Article 5139

2020

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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Nature communications, 2018-10, Vol.9 (1), p.4038-8, Article 4038

2018

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The genomic basis of adaptive evolution in threespine sticklebacks

Nature (London), 2012-04, Vol.484 (7392), p.55-61

2012

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V-Phaser 2: variant inference for viral populations

BMC genomics, 2013-10, Vol.14 (1), p.674-674

2013

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Identifying novel constrained elements by exploiting biased substitution patterns

Bioinformatics, 2009-06, Vol.25 (12), p.i54-i62

2009

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Advancing RNA-Seq analysis

Nature biotechnology, 2010-05, Vol.28 (5), p.421-423

2010

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Characterization of a Novel Orthomyxo-like Virus Causing Mass Die-Offs of Tilapia

mBio, 2016-04, Vol.7 (2), p.e00431-e00416

2016

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Genome Evolution Following Host Jumps in the Irish Potato Famine Pathogen Lineage

Science (American Association for the Advancement of Science), 2010-12, Vol.330 (6010), p.1540-1543

2010

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Dynamics of dengue disease severity determined by the interplay between viral genetics and serotype-specific immunity

Science translational medicine, 2011-12, Vol.3 (114), p.114ra128

2011

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Nature genetics, 2013-03, Vol.45 (3), p.299-303

2013

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Highly sensitive and specific detection of rare variants in mixed viral populations from massively parallel sequence data

PLoS computational biology, 2012-03, Vol.8 (3), p.e1002417-e1002417

2012

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taxMaps: comprehensive and highly accurate taxonomic classification of short-read data in reasonable time

Genome research, 2018-05, Vol.28 (5), p.751-758

2018

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Lineage-specific biology revealed by a finished genome assembly of the mouse

PLoS biology, 2009-05, Vol.7 (5), p.e1000112-e1000112

2009

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Whole-genome bisulfite sequencing with improved accuracy and cost

Genome research, 2018-09, Vol.28 (9), p.1364-1371

2018

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Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Genetics in medicine, 2019-07, Vol.21 (7), p.1611-1620

2019

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Whole-genome resequencing reveals loci under selection during chicken domestication

Nature (London), 2010-03, Vol.464 (7288), p.587-591

2010

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ATHLATES: accurate typing of human leukocyte antigen through exome sequencing

Nucleic acids research, 2013-08, Vol.41 (14), p.e142-e142

2013

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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

American journal of human genetics, 2016-01, Vol.98 (1), p.58-74

2016

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Conpair: concordance and contamination estimator for matched tumor-normal pairs

Bioinformatics (Oxford, England), 2016-10, Vol.32 (20), p.3196-3198

2016

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Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Genomic Patterns of De Novo Mutation in Simplex Autism

Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs

De novo assembly of highly diverse viral populations

The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

The genomic basis of adaptive evolution in threespine sticklebacks

V-Phaser 2: variant inference for viral populations

Identifying novel constrained elements by exploiting biased substitution patterns

Advancing RNA-Seq analysis

Characterization of a Novel Orthomyxo-like Virus Causing Mass Die-Offs of Tilapia

Genome Evolution Following Host Jumps in the Irish Potato Famine Pathogen Lineage

Dynamics of dengue disease severity determined by the interplay between viral genetics and serotype-specific immunity

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Highly sensitive and specific detection of rare variants in mixed viral populations from massively parallel sequence data

taxMaps: comprehensive and highly accurate taxonomic classification of short-read data in reasonable time

Lineage-specific biology revealed by a finished genome assembly of the mouse

Whole-genome bisulfite sequencing with improved accuracy and cost

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Whole-genome resequencing reveals loci under selection during chicken domestication

ATHLATES: accurate typing of human leukocyte antigen through exome sequencing

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Conpair: concordance and contamination estimator for matched tumor-normal pairs

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