The identification of mutations that are present in a small fraction of DNA templates is
essential for progress in several areas of biomedical research. Though massively parallel …

Error rates in massively parallel sequencing instruments are generally too high to allow
confident identification of rare variants. An approach that can substantially increase the …

Next-generation sequencing (NGS) technologies have transformed genomic research and
have the potential to revolutionize clinical medicine. However, the background error rates of …

Background Rare mutations in surfactant-associated genes contribute to neonatal
respiratory distress syndrome. The frequency of mutations in these genes in the Chinese …

The objective of this study was to investigate whether rare missense genetic variants in
several genes related to platelet functions and acetylsalicylic acid (ASA) response are …

Recently, sequencing technologies have generated massive and heterogeneous data sets.
However, interpretation of these data sets is a major barrier to understand genomic …

YOHYSYJDKVYCJI-UHFFFAOYSA-N n-[3-[[6-[3-(trifluoromethyl) anilino] pyrimidin-4-yl]
amino] phenyl] cyclopropanecarboxamide Chemical compound FC (F)(F) C1= CC= CC …

Next-generation sequencing is often used to identify genetic variants. The probability of
variant detection also depends on the variant caller. Pooled data could be used to lower the …

Pooled sequencing (Pool-seq) is the sequencing of a single library that contains DNA
pooled from different samples. It is a cost-effective alternative to individual whole genome …

Genetic variants that spread along the human genome play vital roles in determining our
traits, affecting development and potentially causing disorders. Most common disorders …