paired-end sequencing

A new study shows that combining size-based and count-based analysis helps determine whether a copy number aberration originates in the mother, fetus, or both.

Exome sequences and copy number patterns suggest lung adenocarcinoma and squamous cell carcinoma are each marked by specific somatic mutations and driver genes.

The high-quality assembly contains clues to carotenoid pigment accumulation and past evolutionary events in the carrot-containing euasterid II clade.

NEW YORK (GenomeWeb) – By tapping pooled, paired-end sequencing data for hundreds of individuals sequenced through the 1000 Genomes Project, a Case Western Reserve University-led team has identified hundreds of relatively common insertion or deletion variants not included in the human reference g

By Andrea Anderson
NEW YORK (GenomeWeb News) – A Singapore-led team has identified a germline polymorphism that appears to account for reduced drug response in some East Asian cancer patients treated with tyrosine kinase inhibitors.

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What happens to scientific papers when certain journals are no longer published? Some scientists are trying to make sure they don't disappear forever.

A study in Microbiome finds that heavy drinkers have an unhealthy mix of bacteria in their mouths.

Doctors and patients are still trying to figure out what role at-home genetic testing should play in healthcare, Newsweek says.

In Genome Research this week, mismatch repair deficiency in C. elegans, retracing transcriptions start site evolution in the human genome, and more.