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whole exome sequencing wes (Broad Clinical Labs)

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Broad Clinical Labs whole exome sequencing wes
Whole Exome Sequencing Wes, supplied by Broad Clinical Labs, used in various techniques. Bioz Stars score: 95/100, based on 309 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/whole+exome+sequencing+wes/Whole+Exome+Sequencing/pmc13112475-54-0-7
Average 95 stars, based on 309 article reviews

whole exome sequencing wes - by Bioz Stars, 2026-10

95/100 stars

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Article Title: PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Article Snippet: ARTICLE PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

Article Title: Eosinophilic Biliary Cystic Neoplasm of the Liver: A Case Report of an Unrecognized Subtype of Intrahepatic Biliary Neoplasm
Article Snippet: .. To characterize genomic alterations, whole‐exome sequencing (WES) and RNA sequencing were performed: somatic variants were identified using MuTect2 (GATK, Broad Institute) and annotated with ANNOVAR (Data ). ..

Article Title: Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome
Article Snippet: .. Whole exome sequencing (WES) was performed on the affected siblings (patients P1 and P2) and their unaffected parents at the Center for Mendelian Genomics (Broad Institute of Harvard and MIT, Boston, USA). .. Exome capture was accomplished using an Illumina 37 Mb exome target (150 bp paired reads).

Article Title: Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models
Article Snippet: .. Whole exome sequencing (WES) was performed: patient I at the Broad Institute of Harvard and MIT (Cambridge, MA, USA) as part of the international MYO-SEQ project [ ]; patient II at Newcastle NHS Trust Hospital, UK; patient III at University of California Irvine, USA, with trio genome sequencing on the proband, his affected mother, and unaffected father. ..

Article Title: Intratumoral bacteria are immunosuppressive and promote immunotherapy resistance in head and neck squamous cell carcinoma
Article Snippet: .. We next performed paired 16S rRNA sequencing (Zymo Research) and whole exome sequencing (WES) on a set of HNSCC tumors performed by the Broad Institute using their Research Human Exome pipeline. .. For depletion antibody treatments, 500 μg anti-CD4 (GK1.5, BioXcell) and anti-CD8α (2.43, BioXcell) antibodies were administered by two intraperitoneal injections on consecutive days one week before tumor implantation followed by re-administration every 14 days 62 .

Article Title: A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1 , causes a congenital disorder of glycosylation
Article Snippet: .. Whole-exome sequencing (WES) was performed at the Broad Institute using an Agilent Sure-Select Human All Exon v.2.0 capture kit and sequenced on an Illumina HiSeq2000 sequencer. ..

Article Title: Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.
Article Snippet: .. Whole exome sequencing (WES) was performed: patient I at the Broad Institute of Harvard and MIT (Cambridge, MA, USA) as part of the international MYO-SEQ project [20]; patient II at Newcastle NHS Trust Hospital, UK; patient III at University of California Irvine, USA, with trio genome sequencing on the proband, his affected mother, and unaffected father. ..

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