Mendelian and complex genetic trait diseases continue to burden and affect society both
socially and economically. The lack of effective tests has hampered diagnosis thus, the …

Whole‐genome or whole‐exome sequencing (WGS/WES) of the affected proband together
with normal parents (trio) is commonly adopted to identify de novo germline mutations …

Accurate identification of genetic variants from family child–mother–father trio sequencing
data is important in genomics. However, state-of-the-art approaches treat variant calling from …

Oral squamous cell carcinoma (OSCC) is a common subtype of head and neck squamous
cell carcinoma (HNSCC), but the pathogenesis underlying familial OSCCs is unknown …

Every human inherits one copy of the genome from their mother and another from their
father. Parental inheritance helps us understand the transmission of traits and genetic …

Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental
conditions with a strong, albeit complex, genetic basis. The genetic architecture of ASD …

The rapid increase of genome data brought by gene sequencing technologies poses a
massive challenge to data processing. To solve the problems caused by enormous data and …

Accurate single cell mutational profiles can reveal genomic cell-to-cell heterogeneity.
However, sequencing libraries suitable for genoty** require whole genome amplification …

Abstract Motivation In 2018, Google published an innovative variant caller, DeepVariant,
which converts pileups of sequence reads into images and uses a deep neural network to …

Computational Immunology: Applications focuses on different mathematical models,
statistical tools, techniques, and computational modelling that helps in understanding …