Search Results - "Moshrefi, Ali"
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Comprehensive transcriptome analysis using synthetic long-read sequencing reveals molecular co-association of distant splicing events
Published in Nature biotechnology (01-07-2015)“…Illumina-based synthetic long read RNA-seq enables comprehensive analysis of alternative splicing in transcriptomes. Alternative splicing shapes mammalian…”
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Prevalence of disordered eating in athletes categorized by emphasis on leanness and activity type - a systematic review
Published in Journal of eating disorders (29-09-2020)“…Disordered Eating (DE) shows a strong association with athletics and can lead to several negative mental and physical health effects. Traditionally, sports…”
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Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing
Published in Nature biotechnology (01-09-2021)“…Clinical applications of precision oncology require accurate tests that can distinguish true cancer-specific mutations from errors introduced at each step of…”
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Extensive sequencing of seven human genomes to characterize benchmark reference materials
Published in Scientific data (07-06-2016)“…The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials and data for human…”
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Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing
Published in Nature biotechnology (01-09-2021)“…The lack of samples for generating standardized DNA datasets for setting up a sequencing pipeline or benchmarking the performance of different algorithms…”
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Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies
Published in Genome Biology (13-12-2022)“…The cancer genome is commonly altered with thousands of structural rearrangements including insertions, deletions, translocation, inversions, duplications, and…”
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A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect
Published in American journal of medical genetics. Part A (01-04-2010)“…Using an Affymetrix GeneChip® Human Mapping 100K Set to study a patient with a late‐presenting, right‐sided diaphragmatic hernia and microphthalmia, we found a…”
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Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2
Published in European journal of human genetics : EJHG (01-09-2006)“…Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. There have been few studies that have assessed copy number…”
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