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1
Sequencing-based methods and resources to study antimicrobial resistance
Sequencing-based methods and resources to study antimicrobial resistance
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Sequencing-based methods and resources to study antimicrobial resistance

Nature reviews. Genetics, 2019-06, Vol.20 (6), p.356-370 [Peer Reviewed Journal]

COPYRIGHT 2019 Nature Publishing Group ;2019© Springer Nature Limited 2019 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/s41576-019-0108-4 ;PMID: 30886350

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2
DengueSeq: a pan-serotype whole genome amplicon sequencing protocol for dengue virus
DengueSeq: a pan-serotype whole genome amplicon sequencing protocol for dengue virus
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DengueSeq: a pan-serotype whole genome amplicon sequencing protocol for dengue virus

BMC genomics, 2024-05, Vol.25 (1), p.433-433 [Peer Reviewed Journal]

2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2024 ;ISSN: 1471-2164 ;EISSN: 1471-2164 ;DOI: 10.1186/s12864-024-10350-x ;PMID: 38693476

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3
Trycycler: consensus long-read assemblies for bacterial genomes
Trycycler: consensus long-read assemblies for bacterial genomes
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Trycycler: consensus long-read assemblies for bacterial genomes

Genome Biology, 2021-09, Vol.22 (1), p.266-266, Article 266 [Peer Reviewed Journal]

2021. The Author(s). ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 1474-760X ;ISSN: 1474-7596 ;EISSN: 1474-760X ;DOI: 10.1186/s13059-021-02483-z ;PMID: 34521459

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4
SMOOTH-seq: single-cell genome sequencing of human cells on a third-generation sequencing platform
SMOOTH-seq: single-cell genome sequencing of human cells on a third-generation sequencing platform
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SMOOTH-seq: single-cell genome sequencing of human cells on a third-generation sequencing platform

Genome Biology, 2021-06, Vol.22 (1), p.195-195, Article 195 [Peer Reviewed Journal]

2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 1474-760X ;ISSN: 1474-7596 ;EISSN: 1474-760X ;DOI: 10.1186/s13059-021-02406-y ;PMID: 34193237

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5
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
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The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

Genetics in medicine, 2020-01, Vol.22 (1), p.85-94 [Peer Reviewed Journal]

2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2019 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0618-7 ;PMID: 31358947

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6
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Genetics in medicine, 2018-04, Vol.20 (4), p.435-443 [Peer Reviewed Journal]

Copyright Nature Publishing Group Apr 2018 ;Copyright © 2018 The Author(s) 2018 The Author(s) ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.119 ;PMID: 28771251

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7
Opportunities and challenges in long-read sequencing data analysis
Opportunities and challenges in long-read sequencing data analysis
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Opportunities and challenges in long-read sequencing data analysis

Genome Biology, 2020-02, Vol.21 (1), p.30-30, Article 30 [Peer Reviewed Journal]

2020. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2020 ;ISSN: 1474-760X ;ISSN: 1474-7596 ;EISSN: 1474-760X ;DOI: 10.1186/s13059-020-1935-5 ;PMID: 32033565

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8
Best practices for variant calling in clinical sequencing
Best practices for variant calling in clinical sequencing
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Best practices for variant calling in clinical sequencing

Genome medicine, 2020-10, Vol.12 (1), p.91-91, Article 91 [Peer Reviewed Journal]

COPYRIGHT 2020 BioMed Central Ltd. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2020 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-020-00791-w ;PMID: 33106175

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9
Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

Human mutation, 2018-09, Vol.39 (9), p.1262 [Peer Reviewed Journal]

ISSN: 1059-7794 ;ISSN: 1098-1004 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.23580

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10
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature
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Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

Genetics in medicine, 2019-01, Vol.21 (1), p.3-16 [Peer Reviewed Journal]

2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0024-6 ;PMID: 29760485

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11
Comparison of structural variant callers for massive whole-genome sequence data
Comparison of structural variant callers for massive whole-genome sequence data
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Comparison of structural variant callers for massive whole-genome sequence data

BMC genomics, 2024-03, Vol.25 (1), p.318-318 [Peer Reviewed Journal]

2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2024 ;ISSN: 1471-2164 ;EISSN: 1471-2164 ;DOI: 10.1186/s12864-024-10239-9 ;PMID: 38549092

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12
Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping, and de novo assembly
Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping, and de novo assembly
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Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping, and de novo assembly

Genome research, 2019-05, Vol.29 (5), p.798-808 [Peer Reviewed Journal]

2019 Wang et al.; Published by Cold Spring Harbor Laboratory Press. ;Copyright Cold Spring Harbor Laboratory Press May 2019 ;2019 ;ISSN: 1088-9051 ;EISSN: 1549-5469 ;DOI: 10.1101/gr.245126.118 ;PMID: 30940689

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13
Are we there yet? Benchmarking low-coverage nanopore long-read sequencing for the assembling of mitochondrial genomes using the vulnerable silky shark Carcharhinus falciformis
Are we there yet? Benchmarking low-coverage nanopore long-read sequencing for the assembling of mitochondrial genomes using the vulnerable silky shark Carcharhinus falciformis
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Are we there yet? Benchmarking low-coverage nanopore long-read sequencing for the assembling of mitochondrial genomes using the vulnerable silky shark Carcharhinus falciformis

BMC genomics, 2022-04, Vol.23 (1), p.320-320, Article 320 [Peer Reviewed Journal]

2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2022 ;ISSN: 1471-2164 ;EISSN: 1471-2164 ;DOI: 10.1186/s12864-022-08482-z ;PMID: 35459089

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14
Whole Genome Sequencing of SARS-CoV-2: Adapting Illumina Protocols for Quick and Accurate Outbreak Investigation during a Pandemic
Whole Genome Sequencing of SARS-CoV-2: Adapting Illumina Protocols for Quick and Accurate Outbreak Investigation during a Pandemic
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Whole Genome Sequencing of SARS-CoV-2: Adapting Illumina Protocols for Quick and Accurate Outbreak Investigation during a Pandemic

Genes, 2020-08, Vol.11 (8), p.949 [Peer Reviewed Journal]

COPYRIGHT 2020 MDPI AG ;2020. This work is licensed under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 by the authors. 2020 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes11080949 ;PMID: 32824573

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15
GRIM-Filter: Fast seed location filtering in DNA read mapping using processing-in-memory technologies
GRIM-Filter: Fast seed location filtering in DNA read mapping using processing-in-memory technologies
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GRIM-Filter: Fast seed location filtering in DNA read mapping using processing-in-memory technologies

BMC genomics, 2018-05, Vol.19 (Suppl 2), p.89-89, Article 89 [Peer Reviewed Journal]

COPYRIGHT 2018 BioMed Central Ltd. ;COPYRIGHT 2018 BioMed Central Ltd. ;The Author(s) 2018 ;ISSN: 1471-2164 ;EISSN: 1471-2164 ;DOI: 10.1186/s12864-018-4460-0 ;PMID: 29764378

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16
Benchmarking hybrid assembly approaches for genomic analyses of bacterial pathogens using Illumina and Oxford Nanopore sequencing
Benchmarking hybrid assembly approaches for genomic analyses of bacterial pathogens using Illumina and Oxford Nanopore sequencing
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Benchmarking hybrid assembly approaches for genomic analyses of bacterial pathogens using Illumina and Oxford Nanopore sequencing

BMC genomics, 2020-09, Vol.21 (1), p.631-631, Article 631 [Peer Reviewed Journal]

COPYRIGHT 2020 BioMed Central Ltd. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2020 ;ISSN: 1471-2164 ;EISSN: 1471-2164 ;DOI: 10.1186/s12864-020-07041-8 ;PMID: 32928108

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17
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Nature genetics, 2020-09, Vol.52 (9), p.969-983 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2020 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-020-0676-4 ;PMID: 32839606

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18
New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene
New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene
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New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

Human mutation, 2015-04, Vol.36 (4), p.425-431 [Peer Reviewed Journal]

2015 WILEY PERIODICALS, INC. ;ISSN: 1059-7794 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.22769 ;PMID: 25684268

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19
Comparative analysis of sequencing technologies for single-cell transcriptomics
Comparative analysis of sequencing technologies for single-cell transcriptomics
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Comparative analysis of sequencing technologies for single-cell transcriptomics

Genome Biology, 2019-04, Vol.20 (1), p.70-70, Article 70 [Peer Reviewed Journal]

2019. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s). 2019 ;ISSN: 1474-760X ;ISSN: 1474-7596 ;EISSN: 1474-760X ;DOI: 10.1186/s13059-019-1676-5 ;PMID: 30961669

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20
Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting
Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting
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Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting

Human mutation, 2020-09, Vol.41 (9), p.1671 [Peer Reviewed Journal]

ISSN: 1059-7794 ;ISSN: 1098-1004 ;EISSN: 1098-1004 ;DOI: 10.1002/humu.24063

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