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Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method
Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method
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Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method

Abicht, Angela ; Scharf, Florentine ; Kleinle, Stephanie ; Schön, Ulrike ; Holinski‐Feder, Elke ; Horvath, Rita ; Benet‐Pagès, Anna ; Diebold, Isabel

Molecular genetics & genomic medicine, 2018-11, Vol.6 (6), p.1188-1198 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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2
Single-cell genomics: unravelling the genomes of unculturable microorganisms
Single-cell genomics: unravelling the genomes of unculturable microorganisms
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Single-cell genomics: unravelling the genomes of unculturable microorganisms

de Jager, Victor ; Siezen, Roland J.

Microbial biotechnology, 2011-07, Vol.4 (4), p.431-437 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Palmer, Elizabeth E. ; Schofield, Deborah ; Shrestha, Rupendra ; Kandula, Tejaswi ; Macintosh, Rebecca ; Lawson, John A. ; Andrews, Ian ; Sampaio, Hugo ; Johnson, Alexandra M. ; Farrar, Michelle A. ; Cardamone, Michael ; Mowat, David ; Elakis, George ; Lo, William ; Zhu, Ying ; Ying, Kevin ; Morris, Paula ; Tao, Jiang ; Dias, Kerith‐Rae ; Buckley, Michael ; Dinger, Marcel E. ; Cowley, Mark J. ; Roscioli, Tony ; Kirk, Edwin P. ; Bye, Ann ; Sachdev, Rani K.

Molecular genetics & genomic medicine, 2018-03, Vol.6 (2), p.186-199 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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4
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

Leija‐Salazar, Melissa ; Sedlazeck, Fritz J. ; Toffoli, Marco ; Mullin, Stephen ; Mokretar, Katya ; Athanasopoulou, Maria ; Donald, Aimee ; Sharma, Reena ; Hughes, Derralynn ; Schapira, Anthony H.V. ; Proukakis, Christos

Molecular genetics & genomic medicine, 2019-03, Vol.7 (3), p.e564-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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5
Evaluation of copy number variant detection from panel‐based next‐generation sequencing data
Evaluation of copy number variant detection from panel‐based next‐generation sequencing data
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Evaluation of copy number variant detection from panel‐based next‐generation sequencing data

Yao, Ruen ; Yu, Tingting ; Qing, Yanrong ; Wang, Jian ; Shen, Yiping

Molecular genetics & genomic medicine, 2019-01, Vol.7 (1), p.e00513-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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6
FF‐QuantSC: accurate quantification of fetal fraction by a neural network model
FF‐QuantSC: accurate quantification of fetal fraction by a neural network model
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FF‐QuantSC: accurate quantification of fetal fraction by a neural network model

Yuan, Yuying ; Chai, Xianghua ; Liu, Na ; Gu, Bida ; Li, Shengting ; Gao, Ya ; Zhou, Lijun ; Liu, Qiang ; Yang, Fan ; Liu, Jingjuan ; Qiu, Jiao ; Zhang, Jinjin ; Hou, Yumei ; Cen, Miaolan ; Tian, Zhongming ; Tang, Weijiang ; Zhang, Hongyun ; Chen, Fang ; Yin, Ye ; Wang, Wei

Molecular genetics & genomic medicine, 2020-06, Vol.8 (6), p.e1232-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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7
Discovering genetic polymorphisms in next-generation sequencing data
Discovering genetic polymorphisms in next-generation sequencing data
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Discovering genetic polymorphisms in next-generation sequencing data

Imelfort, Michael ; Duran, Chris ; Batley, Jacqueline ; Edwards, David

Plant biotechnology journal, 2009-05, Vol.7 (4), p.312-317 [Periódico revisado por pares]

Oxford, UK: Oxford, UK : Blackwell Publishing Ltd

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8
Genome Update. Let the consumer beware: Streptomyces genome sequence quality
Genome Update. Let the consumer beware: Streptomyces genome sequence quality
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Genome Update. Let the consumer beware: Streptomyces genome sequence quality

Studholme, David J.

Microbial Biotechnology, 2016-01, Vol.9 (1), p.3-7 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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9
Pilot study of a novel multi‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening
Pilot study of a novel multi‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening
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Pilot study of a novel multi‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening

Luo, Yuqin ; Jia, Bei ; Yan, Kai ; Liu, Siping ; Song, Xiaojie ; Chen, Mingfa ; Jin, Fan ; Du, Yang ; Wang, Juan ; Hong, Yan ; Cao, Sha ; Li, Dawei ; Dong, Minyue

Molecular genetics & genomic medicine, 2019-04, Vol.7 (4), p.e00597-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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10
Development and validation of a rapid method for genotyping three P‐selectin gene polymorphisms based on high resolution melting analysis
Development and validation of a rapid method for genotyping three P‐selectin gene polymorphisms based on high resolution melting analysis
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Development and validation of a rapid method for genotyping three P‐selectin gene polymorphisms based on high resolution melting analysis

Ceri, Andrea ; Pavic, Marina ; Horvat, Ivana ; Radic Antolic, Margareta ; Zadro, Renata

Journal of clinical laboratory analysis, 2019-03, Vol.33 (3), p.e22698-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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