genetics

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DNA mutation

Optimizing technologies for discovering cancer cell mutations

9/10/18

Cancer cells often have mutations in their DNA that can give scientists clues about how the cancer started or which treatment may be most effective. Finding these mutations can be difficult, but a new method may offer more complete, comprehensive results. A team of researchers has developed a new framework that can combine three existing methods of finding these large mutations — or structural variants — into a single, more complete picture.

Clinical variability of disease-associated mutations can be explained by other variants in the genetic background

Family genetics vital for understanding autism progression

9/7/18

A new study led by researchers at Penn State reveals that the total amount of rare mutations — deletions, duplications or other changes to the DNA sequence — in a person’s genome can explain why individuals with a disease-associated mutation can have vastly different symptoms.

Low Coverage Genes in Whole-Exome Sequencing

Disease-associated genes routinely missed in some genetic studies

4/20/17

Whole-exome DNA sequencing -- a technology that saves time and money by sequencing only protein-coding regions and not the entire genome -- may routinely miss detecting some genetic variations associated with disease, according to Penn State researchers who have developed new ways to identify such omissions.

noses

Nose form was shaped by climate

3/16/17

Big, small, broad, narrow, long or short, turned up, pug, hooked, bulbous or prominent, humans inherit their nose shape from their parents, but ultimately, the shape of someone's nose and that of their parents was formed by a long process of adaptation to our local climate, according to an international team of researchers.

Thomas Gould

Thomas Gould named head of Department of Biobehavioral Health

7/15/16

Thomas J. Gould has been named head of the Department of Biobehavioral Health in the College of Health and Human Development at Penn State. In this role, he will hold the Jean Phillips Shibley Professorship of Biobehavioral Health. Gould joins Penn State, effective July 1, after serving as professor of psychology and director of the program in neuroscience at Temple University.

Gorilla mother, baby, and toddler

Gorilla and human Y chromosomes are highly similar, new method reveals

3/2/16

A faster, less expensive method has been developed and used to learn the DNA sequence of the male-specific Y chromosome in the gorilla. The research reveals that a male gorilla’s Y chromosome is more similar to a male human’s Y chromosome than to a chimpanzee’s. The technique works for any species, so it can be used to study male infertility disorders and male-specific mutations. It also can aid in conservation efforts. "Surprisingly, we found that in many ways the gorilla Y chromosome is more similar to the human Y chromosome than either is to the chimpanzee Y chromosome," said Kateryna Makova, the Francis R. and Helen M. Pentz Professor of Science at Penn State and one of two corresponding authors of the paper.

Petko headshot

York faculty member featured at faculty colloqium Feb. 10

2/5/16

Jessica Petko, assistant professor of biology at Penn State York, will be the featured speaker at a faculty colloquium on Feb. 10. The program, at 12:10 p.m. in 113 John J. Romano Administration Building, is free and open to the public.

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