Vanessa Jump

P629: Detection of sequence variant and copy number mosaicism in genetic testing and its impact on clinical practice

Babi Ramesh Reddy Nallamilli, Vanessa Jump, Ruby Liu, Supan Dhillon et autres

Mosaicism is defined as presence of two or more cell populations with unique genotypes despite originating from the same zygote. Based on the timing of variant acquisition, mosaicism is further divided as gonadal mosaicism and somatic mosaicism. Mosaic variants have been very …

us (code pays fourni par la source)

O54: Molecular insights and cautionary tale of duplications in Duchenne and Becker muscular dystrophy across a large cohort

Naga Guruju, Vanessa Jump, Ruby Liu, Babi Ramesh Reddy Nallamilli et autres

Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by variants in the DMD gene. Comprehensive genetic analysis is essential for accurate diagnosis and heterozygote detection. Next-generation sequencing (NGS) enables detection of the full spectrum of DMD variants, including deletions, duplications, …

us (code pays fourni par la source)

P651: Genomic breakpoint analysis facilitates the identification of X-chromosomal inversion among molecularly unsolved cases of Duchenne muscular dystrophy

Naga Guruju, Vanessa Jump, Babi Ramesh Reddy Nallamilli, Ruby Liu et autres

P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene

Naga Guruju, Vanessa Jump, Ruby Liu, Babi Ramesh Reddy Nallamilli et autres

Duchenne (DMD) and Becker Muscular Dystrophy (BMD) are X-linked recessive disorders with a frequency of 1 in 5000 male infants caused by pathogenic variants in the dystrophin gene. Copy number variants (CNVs) such as intragenic deletions (65%) and duplications (10%) are the …

us (code pays fourni par la source)

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping

Naga Guruju, Vanessa Jump, Richard J.L.F. Lemmers, Silvère M. van der Maarel et autres

Background and Objectives Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common muscular dystrophy in the general population and is characterized by progressive and often asymmetric muscle weakness of the face, upper extremities, arms, lower leg, and hip girdle. In FSHD type …

nl, us, in (code pays fourni par la source)

Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS‐Based Assay

Babi Ramesh Reddy Nallamilli, Naga Guruju, Vanessa Jump, Ruby Liu et autres

Duchenne Muscular Dystrophy (DMD) is an X-linked inherited neuromuscular disorder caused by pathogenic variants in the dystrophin gene (DMD; locus Xp21.2). The variant spectrum of DMD is unique in that 65% of causative mutations are intragenic deletions, with intragenic duplications and point …

ie, us (code pays fourni par la source)

P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping*

Naga Guruju, Vanessa Jump, Babi Ramesh Reddy Nallamilli, Ruby Liu et autres

Introduction: Minimizing false-negative results is critical for diagnostic testing based on next-generation sequencing (NGS).False-negative findings from variant calling are well-recognized including insufficient coverage and failed identification of structural variants.However, the contribution of variant filtering strategies toward false negatives is poorly understood.Variant allele …

ie, us (code pays fourni par la source)

eP356: Exome sequencing expands the sensitivity and specificity of identification of sequence variants and CNVs in phenotypic females with DSD

Naga Guruju, Babi Ramesh Reddy Nallamilli, Vanessa Jump, Christin Collins et autres

ie, us (code pays fourni par la source)

eP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping

Naga Guruju, Vanessa Jump, Babi Ramesh Reddy Nallamilli, Ephrem Chin et autres

ie, us (code pays fourni par la source)