5596 results found

• Publications

  Identification of critical steps involved in optimization of next generation sequencing (NGS) using a retrospective meta-analysis of a large clinical testing cohort

  There is increased use of NGS technology in clinical applications. …

• Publications

  Circulating tumor DNA and circulating tumor cells in metastatic triple negative breast cancer patients

  Circulating tumor DNA (ctDNA) is a new circulating tumor biomarker which might be used as a prognostic biomarker in a way similar to circulating tumor cells (CTCs). …

• Publications

  The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population

  The aim of this study was to estimate the contribution of deleterious mutations in BRCA1, BRCA2, MLH1, MSH2, MSH6 and PMS2 to invasive epithelial ovarian cancer (EOC) in the population. The coding sequence and splice site boundaries of all six genes were amplified in germline DNA from 2240 invasive EOC cases and 1535 controls. …

• Publications

  Detection of cytomegalovirus drug resistance mutations by next-generation sequencing

  Antiviral therapy for cytomegalovirus (CMV) plays an important role in the clinical management of solid organ and hematopoietic stem cell transplant recipients. …

• Publications

  Analysis of circulating tumor DNA to monitor metastatic breast cancer

  The management of metastatic breast cancer requires monitoring of the tumor burden to determine the response to treatment, and improved biomarkers are needed. Biomarkers such as cancer antigen 15-3 (CA 15-3) and circulating tumor cells have been widely studied. However, circulating cell-free DNA carrying tumor-specific alterations (circulating tumor DNA) has not been extensively investigated or compared with other circulating biomarkers in breast cancer. …

• Publications

  Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA

  Plasma of cancer patients contains cell-free tumor DNA that carries information on tumor mutations and tumor burden. …

• Publications

  Microfluidic amplification as a tool for massive parallel sequencing of familial hypercholesterolemia genes

  Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects cholesterol metabolism and is an important risk factor for heart disease. …

• Analysis of the ABCA4 gene by next-generation sequencing

  To find all possible disease-associated variants in coding sequences of the ABCA4 gene in a large cohort of patients diagnosed with ABCA4-associated diseases. …

• Publications

  Microfluidic PCR combined with pyrosequencing for identification of allelic variants with phenotypic associations among targeted Salmonella genes

  A novel targeted massive parallel sequencing approach identified genetic variation in eight known or predicted fimbrial adhesins for 46 Salmonella strains. …

• Publications

  Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation

  Allele-specific DNA methylation (ASM) is well studied in imprinted domains, but this type of epigenetic asymmetry is actually found more commonly at non-imprinted loci, where the ASM is dictated not by parent-of-origin but instead by the local haplotype. …

• Publications

  High throughput detection of clinically relevant mutations in archived tumor samples by multiplexed PCR and next-generation sequencing

  Tailoring cancer treatment to tumor molecular characteristics promises to make personalized medicine a reality. …

• Publications

  Allelic expression of deleterious protein-coding variants across human tissues

  Personal exome and genome sequencing provides access to loss-of-function and rare deleterious alleles whose interpretation is expected to provide insight into individual disease burden. …

• Publications

  RNF43 is frequently mutated in colorectal and endometrial cancers

  We report somatic mutations of RNF43 in over 18% of colorectal adenocarcinomas and endometrial carcinomas. …

• Publications

  Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing

  Clinical specimens undergoing diagnostic molecular pathology testing are fixed in formalin due to the necessity for detailed morphological assessment. …

• Publications

  AmpliVar: Mutation detection in high-throughput sequence from amplicon-based libraries

  Conventional means of identifying variants in high-throughput sequencing align each read against a reference sequence, and then call variants at each position. …

• Publications

  Prevalence of germline mutations in genes engaged in DNA damage repair by homologous recombination in patients with triple-negative and hereditary non-triple-negative breast cancers

  This study sought to assess the prevalence of common germline mutations in several genes engaged in the repair of DNA double-strand break by homologous recombination in patients with triple-negative breast cancers and hereditary non-triple-negative breast cancers. …

• article

  Pioneering Progress in Cancer Immunotherapy

  Single-cell genomics advances T cell immunotherapies at MD Anderson Cancer Center …

• article

  A Visionary Call to Action

  Sonia Gavasso on the potential for mass cytometry to improve immunotherapy …

• article

  Mass Cytometry in Focus: Evan Lind

  Defining the Immune Microenvironment of AML …

• faq

  What is the process for redesigning assays?

  The primer pooling algorithm generates 20 primer pools that are designed for minimal interactions among primers and minimal nonspecific amplification. …