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Copy number variation

Analytical validation of GenoPharm a clinical genotyping open array panel of 46 pharmacogenes inclusive of variants unique to people of African ancestry

Comfort Ropafadzo Kanji, Bianza Tinotenda Mbavha, Collen Masimirembwa, Roslyn Stella Thelingwani

T cell-mediated tumor killing patterns in head and neck squamous cell carcinoma identify novel molecular subtypes, with prognosis and therapeutic implications

Zilu Meng, Lei Zhu, [ ... ], Yudong Wang

A comprehensive performance analysis of sequence-based within-sample testing NIPT methods

Tom Mokveld, Zaid Al-Ars, Erik A. Sistermans, Marcel Reinders

Identification of copy number variations in the genome of Dairy Gir cattle

Larissa G. Braga, Tatiane C. S. Chud, [ ... ], Danísio P. Munari

Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population

Kyriacos Markianos, Frederic Dong, [ ... ], for the Million Veteran Program

Quantitative PCR from human genomic DNA: The determination of gene copy numbers for congenital adrenal hyperplasia and RCCX copy number variation

Márton Doleschall, Ottó Darvasi, [ ... ], Attila Patócs

FCGR3A gene duplication, FcγRIIb-232TT and FcγRIIIb-HNA1a associate with an increased risk of vertical acquisition of HIV-1

Joy Ebonwu, Ria Lassaunière, [ ... ], Caroline T. Tiemessen

Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype

Akane Yoshikawa, Itaru Kushima, [ ... ], Makoto Arai

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

Lydia Sagath, Vilma-Lotta Lehtokari, [ ... ], Kirsi Kiiski

vWCluster: Vector-valued optimal transport for network based clustering using multi-omics data in breast cancer

Jiening Zhu, Jung Hun Oh, Joseph O. Deasy, Allen R. Tannenbaum

DriverFuse: An R package for analysis of next-generation sequencing datasets to identify cancer driver fusion genes

Shikha Roy, Dinesh Gupta

Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?

Marta Larroya, Marta Tortajada, [ ... ], Antoni Borrell

A computational method for drug sensitivity prediction of cancer cell lines based on various molecular information

Fatemeh Ahmadi Moughari, Changiz Eslahchi

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