Results 261 to 270 of about 3,779,882 (303)

Muir-Torre Syndrome Associated With a Cryptic Intronic MSH2 Variant Identified via Whole-Genome Sequencing: A Case Report. [PDF]

Pathol Int
Noda K, Kurohama H, Matsuda K, Kinoshita A, Mishima H, Matsumoto M, Matsuda R, Ueki N, Kishikawa M, Miura K, Nonaka T, Yoshiura KI, Matsumoto K, Nakashima M.   +13 more
europepmc   +1 more source

Contrasting Features of Papillary and Chromophobe Renal Cell Carcinoma Revealed by Whole-Genome Sequencing. [PDF]

Mol Cancer Res
Culliford R, Mills C, Chubb D, Kinnersley B, Sud A, Cornish AJ, Browning L, Lawrence SED, Bentham R, Frangou A, Gruber AJ, Litchfield K, Wedge DC, Larkin J, Turajlic S, Houlston RS.   +15 more
europepmc   +1 more source

Incidence of Streptococcus spp. and whole genome sequencing of Streptococcus agalactiae isolated from cow's milk samples in Brazil. [PDF]

Vet Res Commun
Morasi RM, Crippa BL, Gebara C, Langoni H, Camargo CH, de Matos LG, Thaler Neto A, Gonçalves MC, Cirone-Silva NC.   +8 more
europepmc   +1 more source

Genetic Diversity and Hospital Circulation of Opportunistic Pathogens in COVID-19 ICUs: Whole-Genome Sequencing Data. [PDF]

Pathogens
Smirnova SS, Avdyunin DD, Stagilskaya YS, Kameneva AA, Platonova TA, Zhuikov NN, Itani TM, Semenov AV.   +7 more
europepmc   +1 more source

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Whole Genome Sequencing

2010
Whole genome sequencing provides the most comprehensive collection of an individual's genetic variation. With the falling costs of sequencing technology, we envision paradigm shift from microarray-based genotyping studies to whole genome sequencing. We review methodologies for whole genome sequencing.
Pauline C, Ng, Ewen F, Kirkness
openaire   +3 more sources

Interpreting Whole-Genome Sequencing

JAMA, 2014
We believe that the report of the yield and interpretability of clinical whole-genome sequencing by Dr Dewey and colleagues1 is unduly pessimistic about the present and future efficacy of this molecular genetic technology in clinical medicine. Their experience of low coverage of key disease genes, poor nucleotide-calling reproducibility, low diagnostic
Wayne W, Grody, Eric, Vilain, Stanley F, Nelson   +2 more
openaire   +2 more sources

Whole-genome DNA sequencing

Computing in Science & Engineering, 1999
Computation is integrally and powerfully involved with the DNA sequencing technology that promises to reveal the complete human DNA sequence in the next several years. After introducing the latest DNA sequencing methods, this article describes three current approaches for completing the sequencing.
openaire   +1 more source